*****APMIS*****

(REFERENCE 1 OF 91) 93207742

Dybdahl H Henriques UV Thymic epithelial abnormalities in patients with congenital heart disease and Down's syndrome.

In: APMIS (1993 Jan) 101(1):73-4

ISSN: 0903-4641

Among 85 children (< 5 years) operated on for congenital heart disease, we found 15 with structural changes of the thymus consisting of epithelial ducts and cysts. Nine of the children had Down's syndrome. In only two of these did we find epithelial abnormalities. In conclusion, these changes were not more frequent in children with Down's syndrome than in other patients with congenital heart disease.

Institutional address: Institute of Pathology Aarhus University Hospital Kommunehospitalet Denmark.

*****ACTA GENETICAE MEDICAE ET GEMELLOLOGIAE*****

(REFERENCE 2 OF 91) 76180988

Papp Z Monozygotic twins with concordance for Down's syndrome and congenital heart disease.

In: Acta Genet Med Gemellol (Roma) (1975) 24(1-2):41-6

ISSN: 0001-5660

Cytogenetic, clinical, and other findings are presented on a pair of same-sex, monochorial MZ twins concordant for both trisomy 21 and congenital heart disease. The literature on Down's syndrome in twins and on congenital heart disease in twins is reviewed and the exceptional occurrence of concordant congenital heart disease in MZ twins is stressed.

*****ACTA PAEDIATRICA JAPONICA*****

(REFERENCE 3 OF 91) 90224609

Hasegawa N Oshima M Kawakami H Hirano H Changes in pulmonary tissue of patients with congenital heart disease and Down syndrome: a morphological and histochemical study.

In: Acta Paediatr Jpn (1990 Feb) 32(1):60-6

ISSN: 0374-5600

Pulmonary tissues obtained from 12 individuals suffering from congenital heart disease associated with Down syndrome were examined by light and transmission electron microscopy and compared with those of 29 cases without the syndrome. Alkaline phosphatase (ALPase) activity, which is known to play an important role in the secretion of pulmonary surfactant, was histochemically examined and compared. The major changes found in the pulmonary tissues examined from pulmonary hypertensive patients were increase in the number of type II alveolar cells and in ALPase activity. ALPase activity was positive in the plasma membrane of type II cells and in the limiting membrane of the osmiophilic bodies contained within them. These changes were more conspicuous and detected at an earlier age in the pulmonary hypertensive individuals with Down syndrome than in those without the syndrome. These observations indicate that the acinar region in pulmonary tissue is affected at an earlier stage, and that changes in the production and secretion of pulmonary surfactant occur, in patients with Down syndrome. Early surgical treatment is recommended for them.

Registry Numbers: EC 3.1.3.1 (Alkaline Phosphatase)

Institutional address: Department of Paediatrics Kyorin University School of Medicine Tokyo Japan.

*****AMERICAN JOURNAL OF CARDIOLOGY*****

(REFERENCE 4 OF 91) 83200969

Yamaki S Horiuchi T Sekino Y Quantitative analysis of pulmonary vascular disease in simple cardiac anomalies with the Down syndrome.

In: Am J Cardiol (1983 May 15) 51(9):1502-6

ISSN: 0002-9149

Intimal changes and medial thickness of small pulmonary arteries were morphometrically examined in 21 cases of simple cardiac anomalies with the Down syndrome, and their correlations with age and with pulmonary arterial peak pressure were then compared with those of 20 cases of simple cardiac anomalies without the Down syndrome and 17 cases of complete transposition of the great arteries (TGA). Results indicate that (1) intimal changes developed at an earlier age in patients with simple cardiac anomalies and the Down syndrome than in those without the Down syndrome, (2) the intimal changes were more severe than those in simple cardiac anomalies without the Down syndrome at the same level of pulmonary arterial pressure and milder than those in TGA, and (3) the media of small pulmonary arteries in simple cardiac anomalies with the Down syndrome was thinner than the media in cases without the syndrome at the same radius and the same level of pulmonary arterial pressure but thicker than the media in TGA. Retarded development of medial hypertrophy in the Down syndrome or TGA in response to pulmonary hypertension appears to make the pulmonary arteries susceptible to even moderate pressure load and appears to be responsible for early development of severe intimal changes.

(REFERENCE 5 OF 91) 72155168

Shaher RM Farina MA Porter IH Bishop M Clinical aspects of congenital heart disease in mongolism.

In: Am J Cardiol (1972 Apr) 29(4):497-503

ISSN: 0002-9149

[No Abstract Available]

(REFERENCE 6 OF 91) 69275036

Cullum L Liebman J The association of congenital heart disease with Down's syndrome (mongolism).

In: Am J Cardiol (1969 Sep) 24(3):354-7

ISSN: 0002-9149

[No Abstract Available]

*****AMERICAN JOURNAL OF DISEASES OF CHILDREN*****

(REFERENCE 7 OF 91) 90386133

Marino B Vairo U Corno A Nava S Guccione P Calabro R Marcelletti C Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome.

In: Am J Dis Child (1990 Oct) 144(10):1120-2

ISSN: 0002-922X

The atrioventricular canal is the "classic" congenital heart anomaly in Down syndrome. We may learn more of the nature of this disorder by careful study of the anatomic characteristics of the cardiac lesions and by comparing these lesions in patients with and patients without Down syndrome. We reviewed the clinical characteristics (echocardiographic and angiocardiographic) of 220 patients with atrioventricular canal and compared the prevalence of anatomic types and associated cardiac malformations in children with (105) and without (115) Down syndrome. In patients with Down syndrome, the complete form of atrioventricular canal was prevalent, with a high frequency of associated Fallot's tetralogy. Partial atrioventricular canal and left-sided anomalies were more common in patients without Down syndrome. Down syndrome is associated with a simpler type of atrioventricular canal when compared with patients with a normal chromosome configuration.

Institutional address: Department of Pediatric Cardiology and Cardiac Surgery Bambino Gesu' Hospital Rome Italy.

(REFERENCE 8 OF 91) 77108954

Park SC Mathews RA Zuberbuhler JR Rowe RD Neches WH Lenox CC Down syndrome with congenital heart malformation.

In: Am J Dis Child (1977 Jan) 131(1):29-33

ISSN: 0002-922X

Two hundred fifty-one patients with Down syndrome and congenital heart disease was based on clinical (41%), catheterization (38%), surgical (11%), or autopsy data (10%). The most common lesions were endocardial cushion defect (43%), ventricular septal defect (32%), secundum atrial septal defect (10%), tetralogy of Fallot (6%), and isolated patent ductus arteriosus (4%). Thirty percent had multiple cardiac defects. The most common associated lesions were patent ductus arteriosus (16%) and pulmonic stenosis (9%). Twenty-five percent of the patients uncerwent cardiac surgery. Motality in the 68 patients undergoing surgery was 26% for open heart procedures and 11% for closed heart surgery. In 32% of nonsurgically treated patients with large left-to-right shunts, irreversible pulmonary vascular disease developed. Improved medical and surgical care have decreased morbidity and mortality in these patients in recent years.

(REFERENCE 9 OF 91) 89132483

Schneider DS Zahka KG Clark EB Neill CA Patterns of cardiac care in infants with Down syndrome.

In: Am J Dis Child (1989 Mar) 143(3):363-5

ISSN: 0002-922X

To determine if the pattern of cardiac care is affected by the presence of Down syndrome (DS) we analyzed the records of infants enrolled in the Baltimore-Washington Infant Study, a regional case- control study of congenital cardiovascular malformations. The age at cardiac diagnosis, the timing of cardiac surgery, and the one-year outcome were compared in 160 infants with DS and 540 infants with the same cardiac diagnoses but without chromosomal or other extracardiac anomalies (Isolated cardiovascular malformation [ICM] group). Cardiac referral and diagnosis were accomplished by 13 weeks of age in 78% of infants with DS and 67% of those with ICMs. However, by 26 weeks of age, the proportion of infants in both groups was comparable. Cardiac surgery was performed before 1 year of age in 99 of 160 infants with DS and in 141 of 540 infants with ICMs. The surgical outcome was similar in the two groups. We conclude that for defects of comparable severity, the pattern of cardiac care in the Baltimore-Washington, DC, area for infants with DS is timely and comparable to care for infants with ICMs.

Institutional address: Department of Pediatrics Johns Hopkins University School of Medicine Baltimore.

(REFERENCE 10 OF 91) 67135933

Higashino SM Moss AJ Capillary microscopy. Abnormalities in cystic fibrosis, congenital heart disease, and mongolism.

In: Am J Dis Child (1967 Apr) 113(4):439-43

ISSN: 0002-922X

[No Abstract Available]

(REFERENCE 11 OF 91) 85304061

Feingold M O'Brien JE Kreidberg MB Cardiac care for children with Down's syndrome [letter]

In: Am J Dis Child (1985 Oct) 139(10):965-6

ISSN: 0002-922X

[No Abstract Available]

(REFERENCE 12 OF 91) 85119195

Sondheimer HM Byrum CJ Blackman MS Unequal cardiac care for children with Down's syndrome.

In: Am J Dis Child (1985 Jan) 139(1):68-70

ISSN: 0002-922X

We reviewed the course of all 36 new patients with complete atrioventricular canal defect (CAVC) seen in a regional center from 1977 through 1982. Of this group of 36 patients, 28 had Down's syndrome. The eight children without Down's syndrome were all referred before 1 year of age. Surgical intervention was possible for each child. Of the 28 with Down's syndrome, 18 were referred before 1 year of age. Surgery intervention was possible in 17 (94%) of 18. Of the ten children with Down's syndrome referred after 1 year of age, surgical therapy was not possible in five because of pulmonary vascular obstructive disease (PVOD). Since CAVC is known to progress to PVOD at an early age, it is not surprising that half of those patients referred after 1 year of age had become inoperable because of this complication. We therefore concluded that in spite of the severity of CAVC some children with Down's syndrome and this heart condition are being denied standard cardiac care by the process of late referral.

*****AMERICAN JOURNAL OF EPIDEMIOLOGY*****

(REFERENCE 13 OF 91) 93167213

Khoury MJ Erickson JD Improved ascertainment of cardiovascular malformations in infants with Down's syndrome, Atlanta, 1968 through 1989. Implications for the interpretation of increasing rates of cardiovascular malformations in surveillance systems.

In: Am J Epidemiol (1992 Dec 15) 136(12):1457-64

ISSN: 0002-9262

Several birth defects surveillance systems have shown an upward trend in the birth prevalence of several congenital cardiovascular malformations. Improvements in clinical ascertainment have been suggested as an explanation for this increase. For several decades, 40-50% of infants with Down's syndrome have been reported to have cardiac defects associated with the unbalanced genotype. Therefore, secular changes in the frequency of ascertained cardiovascular malformations among infants with Down's syndrome in surveillance systems could shed light on improvements in the ascertainment of these defects. The authors examined changes in the frequency of ascertained cardiovascular malformations among 532 cases of Down's syndrome recorded in the Metropolitan Atlanta Congenital Defects Program from 1968 through 1989. Overall, 33% of the cases have reported cardiovascular malformations. However, the frequency of these defects in Down's syndrome infants increased dramatically from about 20% in the early 1970s to more than 50% in the late 1980s (p = 0.0001). This upward trend was seen for all major categories of cardiac defects and persisted after the cases were stratified by race, sex, maternal age, hospital of birth, birth weight, and gestational age. These results show improvement in the ascertainment of cardiovascular malformations among Down's syndrome infants in a surveillance population. They are also consistent with the hypothesis that the increasing rates of cardiac defects are related, at least in part, to improved ascertainment of these defects in the population.

Institutional address: Birth Defects and Genetic Diseases Branch Centers for Disease Control Atlanta GA.

*****AMERICAN JOURNAL OF HUMAN GENETICS*****

(REFERENCE 14 OF 91) 92133604

Korenberg JR Bradley C Disteche CM Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

In: Am J Hum Genet (1992 Feb) 50(2):294-302

ISSN: 0002-9297

Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, an increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. We now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an "overlap" region for the facial and some of the skeletal features. We report the clinical, cytogenetic, and molecular analysis of two patients. The first is DUP21JS, who carries both a partial duplication of chromosome 21, including the region 21q21.1-q22.13, or proximal q22.2, and DS features including duodenal stenosis. Using quantitative Southern blot dosage analysis and 15 DNA sequences unique to chromosome 21, we have defined the molecular extent of the duplication. This includes the region defined by DNA sequences for APP (amyloid precursor protein), SOD1 (CuZn superoxide dismutase), D21S47, SF57, D21S17, D21S55, D21S3, and D21S15 and excludes the regions defined by DNA sequences for D21S16, D21S46, D21S1, D21S19, BCE I (breast cancer estrogen-inducible gene), D21S39, and D21S44. Using similar techniques, we have also defined the region duplicated in the second case occurring in a family carrying a translocation associated with DS and congenital heart disease. This region includes DNA sequences for D21S55 and D21S3 and excludes DNA sequences for D21S47 and D21S17.(ABSTRACT TRUNCATED AT 250 WORDS)

Registry Numbers: 9007-49-2 (DNA)

Institutional address: Ahmanson Department of Pediatrics Cedars-Sinai Medical Center University of California Los Angeles 90048.

(REFERENCE 15 OF 91) 73085595

Reed T Shields L Nance WE Dermatoglyphic heterogeneity in mongolis with congenital heart disease.

In: Am J Hum Genet (1973 Jan) 25(1):109-10

ISSN: 0002-9297

[No Abstract Available]

(REFERENCE 16 OF 91) 93318846

Howard CM Davies GE Farrer MJ Cullen LM Coleman MM Williamson R Wyse RK Palmer R Kessling AM Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.

In: Am J Hum Genet (1993 Aug) 53(2):462-71

ISSN: 0002-9297

We have used DNA polymorphisms to study meiotic crossovers of chromosome 21q in 27 nuclear families. Each family had a child with Down syndrome and a congenital heart defect. Twenty DNA polymorphisms on chromosome 21 were used to determine parental and meiotic origin of nondisjunction and to identify crossovers. Twenty-four cases were of maternal origin, and three were of paternal origin. Twenty-two unequivocal crossover events were identified. Sixteen crossovers were observed in 22 chromosome pairs nondisjoining at the second meiotic division. Fifty percent of crossover events in MI nondisjunction are detectable by molecular genetic means. Thus, the results suggest that, in this sample, each nondisjoined chromosome 21 pair has been involved in at least one crossover event.

Institutional address: Department of Biochemistry and Molecular Genetics St. Mary's Hospital Medical School London England.

*****AMERICAN JOURNAL OF MEDICAL GENETICS*****

(REFERENCE 17 OF 91) 91361934

Lubinsky MS Sir A. E. Garrod, congenital heart disease in Down syndrome, and the doctrine of fetal endocarditis.

In: Am J Med Genet (1991 Jul 1) 40(1):27-30

ISSN: 0148-7299

Archibald Garrod was apparently the first to document congenital heart disease as a component of Down syndrome. This arose from his interest in fetal endocarditis, a theoretical cause of cardiac malformations, in vogue roughly from 1840-1940, that drew its strength from analogies with rheumatic heart disease in adults. Garrod's discovery sheds light not only on nineteenth century ideas about teratology, but also on his methodology, genius, and approaches that, in many ways, foreshadowed the techniques that guided his later work on inborn errors.

Institutional address: Children's Hospital of Wisconsin Genetics and Birth Defects Center Milwaukee 53201.

(REFERENCE 18 OF 91) 99057174

Freeman SB Taft LF Dooley KJ Allran K Sherman SL Hassold TJ Khoury MJ Saker DM Population-based study of congenital heart defects in Down syndrome.

In: Am J Med Genet (1998 Nov 16) 80(3):213-7

ISSN: 0148-7299

Mental retardation and hypotonia are found in virtually all Down syndrome (DS) individuals, whereas congenital heart defects (CHDs) are only present in a subset of cases. Although there have been numerous reports of the frequency of CHDs in DS, few of the studies have had complete ascertainment of DS in a defined geographic area. The Atlanta Down Syndrome Project, a population-based study of infants born with trisomy 21, provides such a resource. In the first 6.5 years of the study, 243 trisomy 21 livebirths were identified in the five-county Atlanta area (birth prevalence: 9.6/10,000). Cardiac diagnoses were available on 227 (93%) of the cases and 89% of these evaluations were made by echocardiography, cardiac catheterization, surgery, or autopsy. Of the 227 DS infants, 44% had CHDs including 45% atrioventricular septal defect (with or without other CHDs), 35% ventricular septal defect (with or without other CHDs), 8% isolated secundum atrial septal defect, 7%, isolated persistent patent ductus arteriosus, 4% isolated tetralogy of Fallot, and 1% other. This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate.

Institutional address: Department of Genetics Emory University Atlanta Georgia 30322 USA. sfreeman@genetics.emory.edu

*****AMERICAN JOURNAL OF MENTAL DEFICIENCY*****

(REFERENCE 19 OF 91) 72113239

Telfer MA Baker D Bergman M Twins, probably monozygotic, displaying Down's syndrome, physical and functional mirror-imaging, and discordance for congenital heart disease.

In: Am J Ment Defic (1972 Jan) 76(4):391-6

ISSN: 0002-9351

[No Abstract Available]

*****AMERICAN JOURNAL OF PUBLIC HEALTH*****

(REFERENCE 20 OF 91) 82157800

Rothman KJ Spermicide use and Down's syndrome.

In: Am J Public Health (1982 Apr) 72(4):399-401

ISSN: 0090-0036

A connection has been suggested between use of vaginal spermicides and the occurrence of Down's syndrome among offspring born to women who used these contraceptive agents. This hypothesis was evaluated with data from a case-control study of congenital heart disease, which included among the subjects 16 infants with Down's syndrome. The estimated ratio of the proportion of Down's syndrome births among spermicide users to the proportion in non-users was 3.6, with a 90 per cent confidence interval of 1.2 to 9.0, thus providing a tentative confirmation of the hypothesis.

*****ANALES ESPANOLES DE PEDIATRIA*****

(REFERENCE 21 OF 91) 80173566

Saenz de Buruaga JD Alegria E Valles V Tellez J Monreal F Elizalde J Alonso A [Down's dyndrome and congenital heart disease (author's transl)]

Sindrome de Down y cardiopatia congenita. Experiencia clinica.

In: An Esp Pediatr (1980 Jan) 13(1):43-50

ISSN: 0302-4342 (Published in Spanish)

Out of a group of 113 cases of Down's syndrome 50 were associated with congenital heart disease, confirmed by haemodynamic, angiographic and surgical means. The mean age was 36.6 months. Twelve were cyanotic, six of them because of an inverted previous left- toright shunt. The endocardial cushion defect, alone or in association, accounted for 40% of these anomalies, and ventricular septal defect for 26%. If the cases with right ventricle outflow obstruction are excluded, 50% presented pulmonary pressures over 70 mmHg. In addition, 80% of endocardial cushion defects presented pulmonary hypertension, being the three fourths under one year of life. On the basis of the data presented, authors remark the need of an early approach to specialized diagnosis of these children, in order to allow an earlier surgical correction or palliation than in children without Down syndrome.

*****ANESTHESIOLOGY*****

(REFERENCE 22 OF 91) 86293761

Morray JP Mac Gillivray R Duker G Increased perioperative risk following repair of congenital heart disease in Down's syndrome.

In: Anesthesiology (1986 Aug) 65(2):221-4

ISSN: 0003-3022

[No Abstract Available]

*****ANGIOLOGY*****

(REFERENCE 23 OF 91) 94175325

Eltohami EA Hajar HA Folger GM Jr Double-chambered right ventricle and Down's syndrome: a proposed new association.

In: Angiology (1994 Feb) 45(2):119-23

ISSN: 0003-3197

Twenty-two cases of double-chambered right ventricle studied in detail from two different centers comprise the study population. Of these, 5 have trisomy-21 Down's syndrome; these five cases, comprising nearly 25% of the entire study group, were essentially evenly divided between the two centers. This unexpectedly high percentage of Down's syndrome associated with such an unusual cardiovascular malformation, albeit among a small population, is likened to the currently recognized and similar association of Down's syndrome and atrioventricular cushion deformities.

Institutional address: Department of Cardiology and Cardiovascular Surgery Hamad General Hospital Doha Qatar.

*****ANNALS OF HUMAN GENETICS*****

(REFERENCE 24 OF 91) 96022304

Davies GE Howard CM Farrer MJ Coleman MM Bennett LB Cullen LM Wyse RK Burn J Williamson R Kessling AM Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome).

In: Ann Hum Genet (1995 Jul) 59 ( Pt 3):253-69

ISSN: 0003-4800

Genetic variation in the COL6A1-COL6A2 gene cluster on chromosome 21 was studied in 113 controls and 58 European families (including control and family subgroups of British/Irish origin) having a child with trisomy 21. There were statistically significant differences among subgroups of trisomic children with and without congenital heart defects (CHD) in distributions of definitive, 3-RFLP haplotype classes received from their nondisjoining and disjoining parents. Haplotypes received by trisomic children with CHD from their disjoining parents were not a random sample of controls' haplotypes. Analysis of parental single-RFLP genotypes and linkage disequilibrium patterns confirmed this parent subgroup differed from a random sample of controls. There were no significant differences in parent subgroup genotype distribution at any of nine control loci distributed along chromosome 21q. This sample showed an association between genetic variation in the COL6A1 gene region and congenital heart defects in trisomy 21.

Institutional address: Department of Biochemistry and Molecular Genetics St Mary's Hospital Medical School Imperial College of Science Technology and Medicine London.

*****ANNALS OF THORACIC SURGERY*****

(REFERENCE 25 OF 91) 98391212

Campbell RM Adatia I Gow RM Webb GD Williams WG Freedom RM Total cavopulmonary anastomosis (Fontan) in children with Down's syndrome.

In: Ann Thorac Surg (1998 Aug) 66(2):523-6

ISSN: 0003-4975

BACKGROUND: There is a paucity of information to guide the management of the child with Down's syndrome and congenital heart disease in whom biventricular repair is precluded. METHODS: Through the cardiology and cardiovascular surgery databases of The Hospital for Sick Children and Toronto Congenital Cardiac Centre for Adults, we identified patients with trisomy 21 and ventricular hypoplasia who had undergone a Fontan procedure (or modification). RESULTS: Of 533 patients who had undergone a Fontan operation between 1976 and 1997, 4 had trisomy 21. All 4 patients had unbalanced complete atrioventricular septal defect with right ventricular hypoplasia in 3 and left ventricular hypoplasia in 1. Three patients survived, and 1 died of endocarditis. The 3 survivors have done well in the short term and medium term without complications related to the pulmonary vasculature. CONCLUSIONS: We suggest that in appropriately selected patients with trisomy 21 and ventricular hypoplasia who are unsuitable for two or one and a half ventricle repair, the Fontan procedure is not contraindicated and provides short-term and medium- term benefit.

Institutional address: Department of Critical Care Medicine The Hospital for Sick Children University of Toronto Ontario Canada.

*****ARCHIVOS DEL INSTITUTO DE CARDIOLOGIA DE MEXICO*****

(REFERENCE 26 OF 91) 74051853

Kreutzer EA Garber VA Rodriguez Coronel A Pedrini M Gonzalez Parente AD [Relation between mongolism and pulmonary hypertensive disease in patients under 5 years of age with septal defects between high pressure chambers]

Relacion entre mongolismo y la enfermedad hipertensive pulmonar, en menores de cinco a~nos de edad con defectos septales entre camaras de alta presion.

In: Arch Inst Cardiol Mex (1973 Sep-Oct) 43(5):692-700

ISSN: 0020-3785 (Published in Spanish)

[No Abstract Available]

(REFERENCE 27 OF 91) 69125136

Armendares S Perez Trevino C [Congenital heart diseases in chromosome abnormalities. I. In Down's syndrome (mongolism)]

Cardiopatias congenitas en las anormalidades cromosomicas. I. En el sindrome de Down (mongolismo)

In: Arch Inst Cardiol Mex (1968 Nov-Dec) 38(6):779-91

ISSN: 0020-3785 (Published in Spanish)

[No Abstract Available]

*****ARCHIVES OF NEUROLOGY*****

(REFERENCE 28 OF 91) 92215209

Wang PP Doherty S Hesselink JR Bellugi U Callosal morphology concurs with neurobehavioral and neuropathological findings in two neurodevelopmental disorders.

In: Arch Neurol (1992 Apr) 49(4):407-11

ISSN: 0003-9942

To integrate neuroimaging, neuropathologic, and neuropsychological findings, computer-assisted morphometry was applied to magnetic resonance images of the corpus callosum in adolescents with Down and Williams syndromes and in control subjects. Callosa of subjects with Down syndrome were distinctively rounded in form, consistent with Down syndrome brachycephaly. These callosa also showed decreased widths throughout their rostral fifth, which serves frontal lobe projections. This finding correlates with the hypocellularity and hypofrontality of neocortex in subjects with Down syndrome and with their neuropsychological profile of frontal lobe dysfunction. Callosa of subjects with Williams syndrome generally resembled control specimens, in congruence with their frontal lobe structure and better preserved frontal lobe function. These results represent a convergence of findings across levels of neuroscientific investigation.

Institutional address: Laboratory for Cognitive Neuroscience Salk Institute for Biological Studies La Jolla CA 92037.

*****ARCHIVES OF PEDIATRICS AND ADOLESCENT MEDICINE*****

(REFERENCE 29 OF 91) 95384336

Garwick AW Patterson J Bennett FC Blum RW Breaking the news. How families first learn about their child's chronic condition.

In: Arch Pediatr Adolesc Med (1995 Sep) 149(9):991-7

ISSN: 1072-4710

OBJECTIVE: To develop recommendations for effectively informing families about their child's chronic illness or disability. METHODS: The sample included 43 families of infants with Down syndrome and/or congenital heart disease who were participating in Project Resilience, which is a multisite longitudinal research project. Family interviews were transcribed verbatim and coded by two raters. Qualitative techniques were used to identify the factors that influenced family caregivers' reactions to learning that their child had been diagnosed as having a chronic condition. RESULTS: Family caregivers clearly distinguished their personal emotional reactions to the diagnosis from their reactions to how providers informed them about their child's condition. Families emphasized the quality of information that they received as well as the manner in which they were told about the condition. Although two thirds of the informing incidents were positive, families also reported negative reactions to outdated and inadequate information as well as to professionals who were insensitive to their needs. CONCLUSIONS: Resident and continuing education programs need to prepare physicians who can sensitively and effectively "break the news" to diverse families who have children with chronic conditions. At the time of diagnosis, clinicians need to PACE the news by (1) planning the setting, (2) assessing the family's background knowledge and experience, (3) choosing strategies that best fit the family's particular situation, and (4) evaluating the family's understanding of the information.

Institutional address: Division of General Pediatrics and Adolescent Health University of Minnesota Minneapolis USA.

*****BMJ (CLINICAL RESEARCH ED.)*****

(REFERENCE 30 OF 91) 91300145

Tubman TR Shields MD Craig BG Mulholland HC Nevin NC Congenital heart disease in Down's syndrome: two year prospective early screening study.

In: BMJ (1991 Jun 15) 302(6790):1425-7

ISSN: 0959-8138

OBJECTIVE--To determine the effectiveness of clinical examination, chest radiography, and electrocardiography compared with echocardiography in detecting congenital heart disease early in the life of children with Down's syndrome. DESIGN--Prospective two year screening survey. SETTING--Regional paediatric cardiology service, Northern Ireland. PATIENTS--81 newborn infants with Down's syndrome born in Northern Ireland between November 1987 and November 1989. INTERVENTIONS--Clinical examination, chest radiography, and electrocardiography soon after birth followed by cross sectional Doppler echocardiography. MAIN OUTCOME MEASURES--Diagnostic ability of clinical examination, radiography, and electrocardiography compared with echocardiographic findings. RESULTS--34 babies had congenital heart disease detected by echocardiography (13 had atrioventricular septal defects, seven secundum atrial septal defects, six a solitary patent ductus arteriosus, five isolated ventricular septal defects, and three combinations of heart defects). Individual examination methods were insensitive (the sensitivity of clinical examination was 0.53, of radiography 0.44, and of electrocardiography 0.41) but highly specific (the specificity of clinical examination was 0.94, of radiography 0.98, and of electrocardiography 1.0), although sensitivity improved when the three techniques were combined (the sensitivity was 0.71, the specificity 0.91). CONCLUSION--Echocardiography performed early in life can detect congenital heart disease that might otherwise be missed. Early detection may help prevent complications such as pulmonary vascular disease that may adversely affect the outcome of cardiac surgery.

Institutional address: Cardiac Unit Royal Belfast Hospital for Sick Children.

(REFERENCE 31 OF 91) 99096716

Mol BW Down's syndrome, cardiac anomalies, and nuchal translucency [editorial; comment]

In: BMJ (1999 Jan 9) 318(7176):70-1

ISSN: 0959-8138

[No Abstract Available]

Comment on: BMJ 1999 Jan 9;318(7176):81-5

*****BIOMEDICINE AND PHARMACOTHERAPY*****

(REFERENCE 32 OF 91) 94289600

Marino B Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects.

In: Biomed Pharmacother (1993) 47(5):197-200

ISSN: 0753-3322

The frequency of congenital heart disease in children with Down's Syndrome is high and ranges between 40 and 50% of cases. It was evident for many years that patients with trisomy 21 present certain congenital heart defects (atrioventricular canal, ventricular septal defect, tetralogy of Fallot) and seem to be "protected" from others (situs inversus and situs ambiguus, ventricular inversion, transposition of the great arteries). Recent observations also suggest that left-sided obstructive lesions and the muscular ventricular septal defect are very rare. The role of a suspected "increased adhesivanes of trisomy 21 cells" and of the anomalies of neutral crest needs to be investigated. The interaction between studies of clinicians and basic research will improve the knowledge of these genetically determined heart defects.

Institutional address: Pediatric Cardiology Bambino Gesu Hospital Rome Italy.

*****BIRTH DEFECTS ORIGINAL ARTICLE SERIES*****

(REFERENCE 33 OF 91) 88135086

Fineman RM Meier G Nye G Vetrano MA The religious influences on the genetic counseling process: a round table discussion.

In: Birth Defects Orig Artic Ser (1987) 23(6):154-61

ISSN: 0547-6844

[No Abstract Available]

Institutional address: University of Utah Medical Center Salt Lake City 84132.

*****BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO*****

(REFERENCE 34 OF 91) 85097431

Rodriguez-Hernandez L Reyes-Nunez J [Congenital cardiopathies in Down's syndrome]

Cardiopatias congenitas en el sindrome de Down.

In: Bol Med Hosp Infant Mex (1984 Nov) 41(11):622-5

ISSN: 0539-6115 (Published in Spanish)

[No Abstract Available]

*****BRITISH HEART JOURNAL*****

(REFERENCE 35 OF 91) 96030481

Abu-Harb M Wyllie J Hey E Richmond S Wren C Antenatal diagnosis of congenital heart disease and Down's syndrome: the potential effect on the practice of paediatric cardiology.

In: Br Heart J (1995 Aug) 74(2):192-8

ISSN: 0007-0769

OBJECTIVE--To predict the effect of antenatal ultrasound screening for congenital heart disease and maternal serum screening of Down's syndrome on the practice of paediatric cardiology and paediatric cardiac surgery. DESIGN--A retrospective and prospective ascertainment of all congenital heart disease diagnosed in infancy in 1985-1991. SETTING--One English health region. PATIENTS--All congenital heart disease diagnosed in infancy by echocardiography, cardiac catheterisation, surgery, or necropsy was classified as "complex", "significant", or "minor" and as "detectable" or "not detectable" on a routine antenatal ultrasound scan. RESULTS--1347 infants had congenital heart disease which was "complex" in 13%, "significant" in 55%, and "minor" in 32%. 15% of cases were "detectable" on routine antenatal ultrasound. Assuming 20% detection and termination of 67% of affected pregnancies, liveborn congenital heart disease would be reduced by 2%, infant mortality from congenital heart disease by 5%, and paediatric cardiac surgical activity by 3%. Maternal screening for Down's syndrome, assuming 75% uptake, 60% detection, and termination of all affected pregnancies, would reduce liveborn cases of Down's syndrome by 45%, liveborn cases of congenital heart disease by 3.5%, and cardiac surgery by 2.6%. CONCLUSIONS--Screening for congenital heart disease using the four chamber view in routine obstetric examinations and maternal serum screening for Down's syndrome is likely to have only a small effect on the requirements for paediatric cardiology services and paediatric cardiac surgery.

Institutional address: Department of Paediatric Cardiology Freeman Hospital Newcastle upon Tyne.

*****BRITISH JOURNAL OF RADIOLOGY*****

(REFERENCE 36 OF 91) 87077280

Wells TR Landing BH Senac MO Jr Gilsanz V Ossification centre of the hyoid bone in complete transposition of great vessels, Ivemark asplenia syndrome, and Down's syndrome with congenital heart disease: correlation with the humeral capital epiphysis.

In: Br J Radiol (1986 Nov) 59(707):1069-72

ISSN: 0007-1285

The incidence of radiographic visibility of the ossification centres of the body of the hyoid bone and of the humeral capital epiphysis in antero-posterior or lateral chest radiographs taken during the first month of life of 63 autopsied infants were analysed. The group comprised patients with Down's syndrome (DS) with congenital heart disease, 15; complete transposition of the great vessels (TGV), 10; Ivemark asplenia syndrome (IS), 17; and a control group of infants with congenital heart disease (CHD) who had none of the above conditions, nor tetralogy of Fallot, interrupted aortic arch, DiGeorge syndrome or hypoplastic left-heart complex, 31. The incidence of radiographically visible hyoid ossification centre (HOC) in the control group was 71% and of humeral capital epiphysis (HE), 16.1%. Autopsied infants with TGV, IS or DS with CHD showed increased visibility of HOC (100%); the incidence of visible HE was increased in neonates with IS (71.4%) and with TGV (50%). The differences in the incidence of radiographic visibility of HOC and HE in neonates with CHD, in this study and in others in the literature, appear to have diagnostic value.

*****CANADIAN JOURNAL OF CARDIOLOGY*****

(REFERENCE 37 OF 91) 94320003

Rosenberg HC Jung JH Soltan HC Li MD Sheridan G Cardiac screening of children with Down's syndrome.

In: Can J Cardiol (1994 Jul-Aug) 10(6):675-7

ISSN: 0828-282X

OBJECTIVE: To establish the role of clinical and laboratory investigation of the cardiovascular system in children with Down's syndrome. DESIGN: Prospective evaluation; examiners blinded to results of laboratory studies. SETTING: Tertiary pediatric referral centre. PATIENTS: Fifty consecutive children with Down's syndrome presenting to a regional genetic centre. Children less than six weeks of age or with known heart disease were excluded. MEASURES: Following independent examinations by a geneticist and a pediatric cardiologist, an electrocardiogram (ECG) and two-dimensional and Doppler echocardiograms were carried out. RESULTS: Assessment by the geneticist yielded two false positives and five false negatives (sensitivity 67%, specificity 88%). Addition of an ECG to clinical evaluation increased the sensitivity to 80% and specificity to 90%, a rate comparable with clinical assessment by a cardiologist. No lesion requiring surgical correction was missed by this combination. CONCLUSIONS: Where expertise in pediatric echocardiography is not readily available, careful clinical assessment coupled with the interpretation of an ECG is adequate and appropriate screening of the child with Down's syndrome.

Institutional address: Department of Pediatrics University of Western Ontario London.

*****CHILD: CARE, HEALTH AND DEVELOPMENT*****

(REFERENCE 38 OF 91) 87216444

Barrera ME Watson LJ Adelstein A Development of Down's syndrome infants with and without heart defects and changes in their caretaking environment.

In: Child Care Health Dev (1987 Mar-Apr) 13(2):87-100

ISSN: 0305-1862

The purpose of this study is two-fold: (1) to describe developmental and family characteristics of infants with Down's syndrome who were enrolled in an intervention programme; and (2) to examine developmental and caretaking patterns related to maternal age and congenital heart defects. Infants and their home environment were assessed at about 3 1/2 months and at 24 months of age. A sample of normal infants of equivalent developmental age were also tested for comparison. We found that while the infants with Down's syndrome showed a significant decline in their developmental quotient compared to the normals, their home environments resembled those of the normal group, particularly at the pretest. Yet, there were more improvements in the homes of the group of normal infants than in the homes of the infants with Down's syndrome, mainly in maternal responsivity. Older mothers restricted their infants with Down's syndrome more than younger mothers, but otherwise they did not seem to differ from each other. Infants with Down's syndrome without heart defects were provided with a better home environment than were infants with Down's syndrome with a heart defect. These results are discussed in the light of the biological limitations placed on the Down's syndrome infants and difficulties in parental adaptation to the diagnosis of Down's syndrome.

*****CHINESE MEDICAL JOURNAL*****

(REFERENCE 39 OF 91) 90031913

Lo NS Leung PM Lau KC Yeung CY Congenital cardiovascular malformations in Chinese children with Down's syndrome.

In: Chin Med J (Engl) (1989 May) 102(5):382-6

ISSN: 0366-6999

149 Chinese children (70 boys, 79 girls) with Down's syndrome and congenital heart disease were studied. Diagnosis of the cardiac abnormality was made by cardiac catheterisation in 119, two- dimensional echocardiography in 23 and autopsy in 7. The commonest lesion was ventricular septal defect which was present in 43.6%, a higher frequency than that reported in Caucasians. Other common lesions included atrioventricular septal defect (15.4%), atrial septal defect (13.4%), tetralogy in Fallot (13.4%) and patent ductus arteriosus (12.1%). Multiple lesions occurred in 36% of the cases, with patent ductus arteriosus, the most frequent coexisting lesion. Other cyanotic congenital heart conditions were very rare and coarctation of aorta was not seen. An aberrant right subclavian artery arising from the descending aorta was present in 16.5% and abnormalities of the radial artery at the wrist were found in 19%. The literature on patterns of congenital heart diseases seen in Down's syndrome was reviewed.

*****CIRCULATION*****

(REFERENCE 40 OF 91) 73191300

Tandon R Edwards JE Cardiac malformations associated with Down's syndrome.

In: Circulation (1973 Jun) 47(6):1349-55

ISSN: 0009-7322

[No Abstract Available]

*****CLINICAL GENETICS*****

(REFERENCE 41 OF 91) 80002322

Mulcahy MT Down's syndrome in Western Australia: mortality and survival.

In: Clin Genet (1979 Aug) 16(2):103-8

ISSN: 0009-9163

An epidemiological investigation of 231 cases of Down's Syndrome born in Western Australia between 1966 and 1976 confirmed the importance of congenital heart disease as a determinant of early mortality. An unexplained and hitherto unreported high incidence of Sudden Death in Infancy Syndrome if survival rates with those of other investigators show, that mortality amongst cases of Down's Syndrome with no congential heart defect has decreased and longevity is no longer a rate occurrence. As a result of these changes, and despite a demonstrable fall in the incidence of Down Syndrome in Western Australia, the prevalence of the condition is expected to rise.

*****CLINICAL PEDIATRICS*****

(REFERENCE 42 OF 91) 91070873

Mathew P Moodie D Sterba R Murphy D Rosenkranz E Homa A Long-term follow-up of children with Down syndrome with cardiac lesions [published erratum appears in Clin Pediatr (Phila) 1991 Feb;30(2):128]

In: Clin Pediatr (Phila) (1990 Oct) 29(10):569-74

ISSN: 0009-9228

Two hundred and eighty four patients with Down Syndrome (DS) were seen between 1951-1989. One-hundred and fourteen (40.1%) had a [corrected] cardiac murmur at presentation. A definitive cardiac diagnosis was established in 47 (41%) patients, of which 38 had long term follow-up. Fifteen (33%) patients had atrioventricular canals. There were 21 males and 17 females, with a mean age of 5.3 years. Fifteen (39%) patients were in functional class (FC) I, 16 (42%) in FC II, six (15%) in FC III, and one patient in FC IV at the time of presentation. There were 18 survivors (13 in the surgical group and five in the nonsurgical group) and 20 nonsurvivors (four in the surgical group and 16 in the nonsurgical group). Causes of death in the nonsurgical group included congestive heart failure, pneumonia, and pulmonary vascular disease, and occurred at a mean age of 8.4 years. Post-operative complications accounted for deaths in three of the four surgical patients. The survivors in the surgical group are presently in FC I/II. In the nonsurgical group, there was increased mortality, especially in those who presented in an earlier era, and a deterioration in functional class on follow-up due to the development of pulmonary vascular disease. Our data suggest that a) patients with Down syndrome and heart disease are helped by cardiac surgery with stabilization and improvement of their functional class; b) deterioration in functional class is seen in patients with Down syndrome with cardiac lesions who are managed nonsurgically [corrected] and c) mortality remains high in such patients treated nonsurgically due to development of pulmonary vascular disease and congestive heart failure.(ABSTRACT TRUNCATED AT 250 WORDS)

Institutional address: Department of Pediatrics Cleveland Clinic Foundation Ohio 44195.

(REFERENCE 43 OF 91) 97339632

Hijii T Fukushige J Igarashi H Takahashi N Ueda K Life expectancy and social adaptation in individuals with Down syndrome with and without surgery for congenital heart disease.

In: Clin Pediatr (Phila) (1997 Jun) 36(6):327-32

ISSN: 0009-9228

Life expectancy and social adaptation in 373 children with Down syndrome with and without congenital heart disease (CHD) were assessed retrospectively. Survival at age 24 years was 92.2% for patients without CHD (n=200), and 74.6% for those with CHD (n=173). Survival for those who underwent operation for cardiovascular lesions (n=95) was 87.8%, and for those not operated on despite hemodynamically significant cardiovascular lesions (n=39), it was 41.4%. Cardiac functional capacity was better in the children without congenital heart disease and in the group operated on, where most patients also attained good social adaptation. We conclude that children with Down syndrome with congenital heart disease should undergo early cardiac evaluation and surgery if indicated.

Institutional address: Department of Pediatrics Faculty of Medicine Kyushu University Higashiku Fukuoka Japan.

*****DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY*****

(REFERENCE 44 OF 91) 78149008

Johnson AM The management of cardiac disease in Down's syndrome.

In: Dev Med Child Neurol (1978 Apr) 20(2):220-3

ISSN: 0012-1622

[No Abstract Available]

*****EPIDEMIOLOGY*****

(REFERENCE 45 OF 91) 99245867

Torfs CP Christianson RE Maternal risk factors and major associated defects in infants with Down syndrome.

In: Epidemiology (1999 May) 10(3):264-70

ISSN: 1044-3983

More than 50% of infants with Down syndrome have associated defects that cause considerable morbidity and mortality. We evaluated the hypothesis that the trisomic genome interacts with environmental factors to increase the risk for specific associated defects. We evaluated risk factors present during early pregnancy in a multiracial population of 687 infants with Down syndrome. Mother's cigarette smoking was associated with the grouped cardiac defects [odds ratio (OR)=2.0; 95% confidence interval (CI) = 1.2-3.2]. When adjusted for other cardiac defects and maternal race, the following specific defects were associated with smoking: atrioventricular canal (OR = 2.3; 95% CI = 1.2-4.5), tetralogy of Fallot (OR = 4.6; 95% CI = 1.2-17.0), and atrial septal defects without ventricular septal defect (OR = 2.2; 95% CI = 1.1-4.3). Hirschsprung disease was associated with mother's daily consumption of more than three cups of coffee (OR = 6.02; 95% CI = 1.2-29.7) and with mother's fever (OR = 3.4; 95% CI = 0.7-16.4), but the number of cases was small. Use of alcohol was not associated with any defect. Mother's race, age, parity, income, or education did not confound the associations. Results suggest that environmental factors can modify the occurrence of associated anomalies in the embryo with Down syndrome.

Institutional address: California Birth Defects Monitoring Program Emeryville 94608-1811 USA.

*****EUROPEAN JOURNAL OF CARDIOLOGY*****

(REFERENCE 46 OF 91) 75149593

Soudon P Stijns M Tremouroux-Wattiez M Vliers A Precocity of pulmonary vascular obstruction of Down's syndrome.

In: Eur J Cardiol (1975 Apr) 2(4):473-6

ISSN: 0301-4711

Studying the pulmonary vascular resistance in children with ventricular septal and endocardial cushion defects, the authors found a statistically significant earlier and more severe reaction in children with Down's syndrome as compared to normals. Cardiac investigations with regard to surgical intervention should be made early in life, if the parents wish their child with Down's syndrome to undergo surgery.

*****GENOMICS*****

(REFERENCE 47 OF 91) 97288519

Hubert RS Mitchell S Chen XN Ekmekji K Gadomski C Sun Z Noya D Kim UJ Chen C Shizuya H Simon M de Jong PJ Korenberg JR BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.

In: Genomics (1997 Apr 15) 41(2):218-26

ISSN: 0888-7543

Chromosome 21 is a model for the study of human chromosomal aneuploidy, and the construction of its physical and transcriptional maps is a necessary step in understanding the molecular basis of aneuploidy-dependent phenotypes. To identify the gene(s) responsible for Down syndrome congenital heart disease (DS-CHD), we constructed a physical map of the D21S55 to MX1 region. A bacterial artificial chromosome (BAC) library was screened using several YACs spanning the interval, and a P1-derived artificial chromosome (PAC) library was screened using radiolabeled STS PCR products and whole BACs in gap- filling initiatives. FISH confirmed the location of all BAC and PAC clones to 21q22.2-q22.3. Overlaps were established using clone-to- clone Southerns and 24 new STSs, generated from the direct sequencing of BAC and PAC ends, along with 35 preexisting STSs. Approximately 3.5 Mb of the 4- to 5-Mb D21S55 to MX1 interval is covered in 85 BACs and 24 PACs, representing fourfold coverage within the contigs. These BAC and PAC contigs are valuable reagents for isolating the genes for DS-CHD.

Institutional address: Abmanson Department of Pediatrics CSMC Burns and Allen Research Institute Los Angeles California USA.

*****HUMAN GENETICS*****

(REFERENCE 48 OF 91) 94222395

Davies GE Howard CM Farrer MJ Coleman MM Cullen LM Williamson R Wyse RK Kessling AM Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.

In: Hum Genet (1994 Apr) 93(4):443-6

ISSN: 0340-6717

Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital heart defects and 21 without) and 37 unrelated volunteers. We found seven unusual genotypes in the parents of affected children with Down's syndrome, five being unique to the parents of children with trisomy 21 and CHD. There were no unusual genotypes associated with other chromosome 21 loci. No single COL6A1 genotype was associated with CHD. Thus, the unusual genotypes unique to parents of affected children suggest that genetic variation in the COL6A1 gene region contributes to the pathogenesis of CHD in Down's syndrome.

Registry Numbers: 9007-34-5 (Collagen)

Institutional address: Department of Biochemistry and Molecular Genetics St. Mary's Hospital Medical School London UK.

(REFERENCE 49 OF 91) 93154719

Davies GE Howard CM Gorman LM Farrer MJ Holland AJ Williamson R Kessling AM Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.

In: Hum Genet (1993 Jan) 90(5):521-5

ISSN: 0340-6717

The COL6A1 and COL6A2 (collagen VI) gene cluster on chromosome 21 is a candidate region for defects leading to congenital heart anomalies in Down's syndrome. We report a variable number of tandem repeats (VNTR) and a restriction fragment length polymorphism (RFLP) in this gene region, detected using a COL6A1 cDNA probe. Linkage disequilibrium relationships were studied among the RFLPs of this gene cluster. The RFLP reported here shows no significant linkage disequilibrium with any others in the region. It has a polymorphism information content value of 0.27, raising the informativity of the locus.

Registry Numbers: EC 3.1.21.- (Deoxyribonuclease BamHI) 9007-34-5 (Collagen)

Institutional address: Dept. of Biochemistry and Molecular Genetics St. Mary's Hospital Medical School London UK.

*****INDIAN JOURNAL OF MEDICAL SCIENCES*****

(REFERENCE 50 OF 91) 98228922

Rajangam S Hegde S Thomas IM Down syndrome associated malformations.

In: Indian J Med Sci (1997 Oct) 51(10):390-3

ISSN: 0019-5359

This paper reports the associated malformations and the clinical findings that were observed in 417 cytogenetically confirmed Down Syndrome patients. Among them congenital heart defects have occurred more frequently [75; 17.98%] than osteoarticular malformations [23; 5.52]; eye anomalies [22; 5.27%]; and gastroenterological malformations [n 16; 3.84%]. With regard to prognosis and treatment appropriate counselling has been given to Down Syndrome patients and their families.

Institutional address: Dept. of Anatomy St. John's Medical College Bangalore.

*****INDIAN PEDIATRICS*****

(REFERENCE 51 OF 91) 93084316

Bhatia S Verma IC Shrivastava S Congenital heart disease in Down syndrome: an echocardiographic study.

In: Indian Pediatr (1992 Sep) 29(9):1113-6

ISSN: 0019-6061

We evaluated the utility of echocardiography in assessing the frequency and nature of cardiac malformations in children with Down syndrome. Fifty cases of chromosomally proven Down syndrome were studied. A physical examination, electro cardiogram, radiograph of chest and two-dimensional echocardiography was performed on all patients. Twenty-two (44%) children had heart diseases. Endocardial- cushion-defect was the commonest anomaly, followed by ventricular septal defect. Three children with heart disease were asymptomatic and had normal X-ray films of chest and ECGs. The prevalence and specific type of congenital heart disease in this study is comparable to the studies using invasive means for diagnosis. The study further suggests that clinical examination of the cardiovascular system alone may not be sufficient in detecting heart disease. Two-dimensional echocardiography offers an excellent non-invasive tool for diagnosing cardiac malformations in Down syndrome.

Institutional address: Department of Pediatrics All India Institute of Medical Sciences New Delhi.

*****INDIANA MEDICINE*****

(REFERENCE 52 OF 91) 89054783

Albrecht GT Hurwitz RA Current management of congenital heart disease in patients with Down's syndrome.

In: Indiana Med (1988 Oct) 81(10):829-34

ISSN: 0746-8288

[No Abstract Available]

*****INTERNATIONAL JOURNAL OF CARDIOLOGY*****

(REFERENCE 53 OF 91) 90307332

Pinto FF Nunes L Ferraz F Sampayo F Down's syndrome: different distribution of congenital heart diseases between the sexes.

In: Int J Cardiol (1990 May) 27(2):175-8

ISSN: 0167-5273

We have investigated the reasons why female patients with Down's syndrome prevail in our out-patient clinic for Paediatric Cardiology compared to the higher incidence of Down's syndrome among live born male children. We reviewed 277 cases of Down's syndrome, 119 males (42.96%) and 158 females (57.04%) from 1970 to 1987. A final diagnosis of the type of the congenital heart disease was accomplished among 210 cases, 85 males (40.47%) and 125 females (59.38%). This different distribution between the sexes was significant (P less than 0.01) when compared to that of the general population with congenital heart disease (4150 patients, 2108 males and 2042 females). The dominant lesion was atrioventricular septal defect, (130 cases; 46 males [54.11%] and 84 females [67.20%]). We found an identical incidence of this lesion among patients without Down's syndrome. In the studied population, we did not find any of the congenital heart diseases usually prevalent in males, such as aortic coarctation or stenosis and complete transposition. The molecular determinants of Down's syndrome seem to influence the preponderance of atrioventricular septal defect in females, increasing its incidence, while seeming to act in a negative way concerning congenital heart diseases usually showing male prevalence.

Institutional address: Department of Paediatric Cardiology Hospital of Santa Marta Lisbon Portugal.

*****INTERNATIONAL JOURNAL OF EPIDEMIOLOGY*****

(REFERENCE 54 OF 91) 97425565

Hayes C Johnson Z Thornton L Fogarty J Lyons R O'Connor M Delany V Buckley K Ten-year survival of Down syndrome births.

In: Int J Epidemiol (1997 Aug) 26(4):822-9

ISSN: 0300-5771

OBJECTIVE: To determine the survival status of children with Down syndrome (DS), and to document factors influencing survival. DESIGN: Follow-up study of cases identified from the Dublin European Register of Congenital Anomalies and Twins (EUROCAT) Register. Follow-up was attempted for each case until death or 1992 or until the date last known to be alive. SETTING: Eastern Health Board, Dublin. SUBJECTS: In all, 389 DS children, born between 1 January 1980 and 31 December 1989 were followed up. RESULTS: Survival rates of 88% at one year and 82% at 10 years were found. There was a non-significant improvement in survival between the cohort born in 1980-1984 and that born in 1985-1989. Congenital heart defects reduced survival to 72% and complete atrio-ventricular canal defects (CAVD) had the poorest prognosis (58% survival at 10 years). Cases with CAVD showed a trend towards improved survival when surgically treated. Maternal age mother's county of residence, sex of infant, season of birth and presence of additional non-cardiac congenital anomalies had no impact on survival. CONCLUSIONS: Four out of five DS children now survive at least 10 years. Adequate educational and health service provision needs to be made for them, especially those with congenital heart defects. The need for studies which compare survival and quality of life in DS children with CAVD who undergo cardiac surgery versus those who do not, taking account of various selection factors, is identified.

Institutional address: Health Information Unit Eastern Health Board Dr Steevens Hospital Dublin Ireland.

*****INTENSIVE CARE NURSING*****

(REFERENCE 55 OF 91) 92012892

Walker C Downs syndrome and congenital heart defects. Part 2: An extended care plan.

In: Intensive Care Nurs (1991 Sep) 7(3):148-59

ISSN: 0266-612X

[No Abstract Available]

(REFERENCE 56 OF 91) 91286665

Walker C Downs syndrome and congenital heart defects. Part 1: Anatomical and functional anomalies, prognosis and treatment.

In: Intensive Care Nurs (1991 Jun) 7(2):94-104

ISSN: 0266-612X

[No Abstract Available]

*****IRISH MEDICAL JOURNAL*****

(REFERENCE 57 OF 91) 90361479

Sheehan A Ward OC Duff DF Denham B Neligan M Wood A Cardiac surgery in Down syndrome.

In: Ir Med J (1990 Jun) 83(2):67-9

ISSN: 0332-3102

Between January 1976 and December 1987 42 children with Down syndrome and congenital heart disease underwent cardiac surgery. Four children had two operations. Age at the time of surgery ranged from 11 days to 14 years. The commonest operative procedure was repair of a patent ductus arteriosus. Four patients died post-operatively, two following repair of a complete atrio-ventricular canal defect (CAVD), one following correction of tetralogy of Fallot in association with a CAVD, and a fourth following closure of ventricular septal defect and atrial septal defect. The mortality for those who had open heart surgery was 13.3% and for the series as a whole the mortality was 6.6% over a period of follow-up ranging from two months to four years. A relatively conservative approach has been adopted with regard to surgery, based on the shorter natural expectation of life in Down syndrome, the complexity of many of the cardiac lesions involved and the recognition of the frequency of early intellectual deterioration in Down patients.

Institutional address: Department of Cardiology Our Lady's Hospital for Sick Children Dublin.

*****JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA*****

(REFERENCE 58 OF 91) 91329639

Hansen DD Haberkern CM Jonas RA Davis PJ McGowan FX Jr Case 1--1991. Tracheal stenosis in an infant with Down's syndrome and complex congenital heart defect.

In: J Cardiothorac Vasc Anesth (1991 Feb) 5(1):81-5

ISSN: 1053-0770

[No Abstract Available]

Institutional address: Department of Anesthesia Children's Hospital Boston MA 02115.

*****JOURNAL OF HOLISTIC NURSING*****

(REFERENCE 59 OF 91) 98060162

Hamilton RJ The case of Baby M: nursing care in an ethical wilderness.

In: J Holist Nurs (1997 Dec) 15(4):425-34; discussion 434-6

ISSN: 0898-0101

This is a reflective case study of an infant with Down Syndrome and a potentially fatal cardiac defect. It is a story of hope and loss, of silence and learning to speak, and of relinquishing space and standing ground. The purpose of this article is to explore the conflicting claims a neonatal intensive care (NICU) nurse faces in caring for critically ill infants. The questions of "Who speaks?" and "Who listens?" are addressed. The concepts of women's moral development and a nursing definition of voice are included. It is proposed that the conventional feminine voice and the embodied knowledge so integral to expert nursing actually draw strength away from the voice that needs to be permitted into the circle of decision makers when ethical issues are raised in the NICU.

Institutional address: Infant Special Care Unit at the University of Texas Medical Branch in Galveston USA.

*****JOURNAL OF MENTAL DEFICIENCY RESEARCH*****

(REFERENCE 60 OF 91) 89362436

Durham NM Koehler JL Dermatoglyphic indicators of congenital heart defects in Down's syndrome patients: a preliminary study.

In: J Ment Defic Res (1989 Aug) 33 ( Pt 4):343-8

ISSN: 0022-264X

In a preliminary study fingerprint patterns of Down's syndrome children were examined to determine correlations with congenital heart defects (CHD). The results demonstrate that the left hand digit ridge count minus the right hand digit ridge count, and number of ridges on the fifth digit of the left hand separate patients with CHD from those without heart defects (W/OHD). The method correctly classified 92% of the CHD group and 73% of the W/OHD group.

Institutional address: Department of Sociology and Anthropology University of Iowa Cedar Falls 50614.

(REFERENCE 61 OF 91) 71213501

Fabia J Drolette M Life tables up to age 10 for mongols with and without congenital heart defect.

In: J Ment Defic Res (1970 Sep) 14(3):235-42

ISSN: 0022-264X

[No Abstract Available]

(REFERENCE 62 OF 91) 85293049

Murdoch JC Congenital heart disease as a significant factor in the morbidity of children with Down's syndrome.

In: J Ment Defic Res (1985 Jun) 29 ( Pt 2):147-51

ISSN: 0022-264X

A comparison of children with Down's syndrome classified according to having congenital heart disease has shown no differences in contact with the general practitioner, new episodes of respiratory illness, acute admission to hospital or mortality over the period of 1981. It is suggested that the prognostic significance of coincidental congenital heart disease in Down's syndrome be questioned.

(REFERENCE 63 OF 91) 85237450

Chaney RH Eyman RK Miller CR The relationship of congenital heart disease and respiratory infection mortality in patients with Down's syndrome.

In: J Ment Defic Res (1985 Mar) 29 ( Pt 1):23-7

ISSN: 0022-264X

Is respiratory infection mortality in Down's syndrome (DS) individuals due mainly to their congenital heart disease (CHD) or to other factors which subject most mentally retarded persons to risk? Detailed clinical and autopsy records of 137 institutionalized DS patients and 480 non-DS controls over 31 years yielded 42 DS subjects and 13 non-DS controls with congenital heart disease. These were compared to 20 DS patients and 20 controls without CHD. The DS and non-DS patients were matched for age, sex and IQ. DS patients had more CHD; controls had more pulmonary oedema. In neither group was there association between heart disease and death from respiratory infection. Nor did pulmonary oedema contribute importantly to such deaths. Such mortality, however, was associated with young age, short institutionalization and bedridden status. We conclude that respiratory infection death in DS individuals is due not primarily to heart disease but to factors which lead to mortality in the general population of retarded people.

*****JOURNAL OF PEDIATRICS*****

(REFERENCE 64 OF 91) 75078876

Rosenquist GC Sweeney LJ Amsel J McAllister HA Enlargement of the membranous ventricular septum: an internal stigma of Down's syndrome.

In: J Pediatr (1974 Oct) 85(4):490-3

ISSN: 0022-3476

A study of heart specimens without ventricular septal defect from patients with down's syndrome showed a significant enlargement of the membranous ventricular septum as compared to the normal heart. This increase in area of the ventricular septum occupied by membranous tissue from 2 to 9% may not only predispose patients with Down's syndrome to congenital heart disease, but may be one end of a spectrum of cardiac anomalies related to malalignment or maldevelopment of the ventricular septum in Down's syndrome.

(REFERENCE 65 OF 91) 98241883

Reller MD Morris CD Is Down syndrome a risk factor for poor outcome after repair of congenital heart defects?

In: J Pediatr (1998 Apr) 132(4):738-41

ISSN: 0022-3476

Down syndrome is commonly associated with significant congenital heart disease with the potential for early development of pulmonary hypertension. As such, children with Down syndrome may be at increased risk for both perioperative and long-term mortality. The purpose of this study, using data collected from a population-based outcomes study, is to analyze the potential role that Down syndrome plays in the outcome of surgically "corrected" congenital heart disease. Data were collected from a registry of all Oregon residents who, in the period 1958 to the present, had a reparative operation for one of 14 congenital cardiac malformations when younger than 18 years (N = 3965 patients). Down syndrome was present in 289 (7%) of the total registry patients. In evaluating the cardiac mortality associated with Down syndrome for each of the repaired cardiac malformations, only complete atrioventricular septal defect was associated with significantly higher perioperative (13% vs 5%) as well as higher overall late cardiac mortality through 20 years after the operation (20% vs 5%; p = 0.04). The survival outcomes for each of the other cardiac malformations were similar for children with and without Down syndrome.

Institutional address: Department of Pediatrics (Cardiology) Oregon Health Sciences University Portland USA.

(REFERENCE 66 OF 91) 93180102

Marino B de Zorzi A Congenital heart disease in trisomy 21 mosaicism [letter; comment]

In: J Pediatr (1993 Mar) 122(3):500-1

ISSN: 0022-3476

[No Abstract Available]

Comment on: J Pediatr 1992 Jul;121(1):80-2

*****JOURNAL OF PEDIATRIC SURGERY*****

(REFERENCE 67 OF 91) 93172064

Harris GJ Soper RT Kimura KK Foramen of Morgagni hernia in identical twins: is this an inheritable defect?

In: J Pediatr Surg (1993 Feb) 28(2):177-8

ISSN: 0022-3468

Twins with Down's syndrome, foramen of Morgagni hernias, and similar cardiac anomalies are described. While diaphragmatic hernias are not uncommon, the occurrence of this congenital defect in twins with very similar congenital anomalies raises the possibility that diaphragmatic hernias may result from an inheritable defect.

Institutional address: Department of Surgery University of Iowa Hospitals and Clinics Iowa City 52242.

*****JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY*****

(REFERENCE 68 OF 91) 77231483

Katlic MR Clark EB Neill C Haller JA Jr Surgical management of congenital heart disease in Down's syndrome.

In: J Thorac Cardiovasc Surg (1977 Aug) 74(2):204-9

ISSN: 0022-5223

[No Abstract Available]

*****JAPANESE HEART JOURNAL*****

(REFERENCE 69 OF 91) 73030008

Matsuo N Oshima M Masuyoshi N Shimizu K Okada R Major and minor anomalies in Japanese children with Down's syndrome.

In: Jpn Heart J (1972 Jul) 13(4):307-16

ISSN: 0021-4868

[No Abstract Available]

*****NIPPON GEKA HOKAN. ARCHIV FUR JAPANISCHE CHIRURGIE*****

(REFERENCE 70 OF 91) 82134169

Minami K Tatsuta N Konishi Y Matsuda K Hirata K Yamasato A Chiba Y Ishihara H Shiraishi Y Muraguchi T Murata S Hikasa Y Hayashidera T Ueda T Surgical treatment of type B complete atrioventricular canal.

In: Nippon Geka Hokan (1981 Sep 1) 50(5):689-98

ISSN: 0003-9152

[No Abstract Available]

*****PEDIATRIC CARDIOLOGY*****

(REFERENCE 71 OF 91) 96376579

Borowski A Zeuchner M Schickendantz S Korb H Down syndrome as a factor influencing hemodynamic response to pulmonary artery banding.

In: Pediatr Cardiol (1996 Nov-Dec) 17(6):375-81

ISSN: 0172-0643

The hemodynamic response to pulmonary artery banding (PAB) in relation to the preoperative pulmonary/systemic vascular resistance (Rp/Rs) ratio and to the timing of surgery, with special regard to Down syndrome, was investigated in 56 nonconsecutive pediatric patients aged 3 days to 6 months (mean 2.5 months) with simple and complex congenital shunt-related cardiac malformations. Among the non- Down patient group (39 patients; mean age 6.9 weeks) there was a good hemodynamic response in all but three cases, irrespective of the preoperative Rp/Rs ratio; these three poor responders had preoperatively normal or nearly normal Rp/Rs ratios (Rp/Rs < 0.3) and were affected postoperatively by lung complications. In the Down patient group (17 patients; mean age 8.2 weeks) the mean preoperative as well as the mean postoperative Rp/Rs ratio was higher than in the non-Down patient group (preoperative Rp/Rs 0.49 versus 0.32; postoperative Rp/Rs 0.31 versus 0.18). There was a good hemodynamic response in all five patients with Down syndrome who had preoperative normal or nearly normal pulmonary vascular resistance ratios (Rp/Rs < 0.3). Among 12 patients with Down syndrome and preoperative increased resistance ratios (Rp/Rs > 0.3) PAB did not cause a reduction in pulmonary vascular resistance (PVR) in five patients (postoperative Rp/Rs 0.49-1.00), all operated on at more than 6 weeks of age. PAB resulted in effective reduction of postoperative Rp/Rs ratios (range 0.10-0.27) in seven patients, six of them younger and one older than 6 weeks at the time of the banding procedure. In conclusion, patients with Down syndrome and shunt-related cardiac malformations (predominantly total atrioventricular canal cases) in general have higher pre- and postoperative Rp/Rs ratios than non-Down children and also have a higher potential for developing pulmonary vascular obstructive disease despite hemodynamically effective PAB. Especially in children with Down syndrome and pathologically high resistance ratios, PAB, if indicated, should be performed as early as possible.

Institutional address: Department of Cardiac Surgery University of Cologne Joseph-Stelzmann Strasse 9 D-50924 Cologne Germany.

(REFERENCE 72 OF 91) 94077748

Gleason MM Roloff JS Cyran SE Weber HS Baylen BG Myers JL Captopril-induced bone marrow suppression in two cardiac patients with trisomy 21.

In: Pediatr Cardiol (1993 Oct) 14(4):227-9

ISSN: 0172-0643

Neutropenia is an infrequent complication following administration of the angiotensin-converting enzyme (ACE) inhibitor, captopril. Most reports have been in adult patients, with rare reports in the pediatric population. We report two cases of neutropenia following captopril use in cardiac patients with trisomy 21. As this was not seen in patients without Down's syndrome, we postulate that patients with trisomy 21 have bone marrow which is "at risk" for suppression, and, thus warrant close evaluation while on such medications.

Registry Numbers: 62571-86-2 (Captopril)

Institutional address: Department of Pediatrics Pennsylvania State University Children's Hospital Hershey 17033.

*****PEDIATRIC CLINICS OF NORTH AMERICA*****

(REFERENCE 73 OF 91) 85062624

Spicer RL Cardiovascular disease in Down syndrome.

In: Pediatr Clin North Am (1984 Dec) 31(6):1331-43

ISSN: 0031-3955

This article focuses on the clinical evaluation of children with cardiovascular diseases associated with Down syndrome. Recent advances in diagnosis and management are discussed and the medical or surgical approach to the patient with severe cardiovascular malformations is presented.

*****PEDIATRIC EMERGENCY CARE*****

(REFERENCE 74 OF 91) 93027642

Woolf PK A three year old with Down's syndrome and pneumonia.

In: Pediatr Emerg Care (1992 Oct) 8(5):295-6

ISSN: 0749-5161

[No Abstract Available]

Institutional address: Division of Pediatric Cardiology New York Medical College Valhalla 10595.

*****PEDIATRIC INFECTIOUS DISEASE JOURNAL*****

(REFERENCE 75 OF 91) 91016673

Thong YH Clinical value of IgG subclass investigations in pediatric practice.

In: Pediatr Infect Dis J (1990 Aug) 9(8 Suppl):S36-40

ISSN: 0891-3668

[No Abstract Available]

Institutional address: Department of Child Health University of Queensland Mater Children's Hospital South Brisbane Australia.

*****PEDIATRIC PATHOLOGY*****

(REFERENCE 76 OF 91) 92131706

Mito T Pereyra PM Becker LE Neuropathology in patients with congenital heart disease and Down syndrome.

In: Pediatr Pathol (1991 Nov-Dec) 11(6):867-77

ISSN: 0277-0938

This report examines the relationship between congenital heart disease (CHD) and neuropathological findings in three groups of patients: Down syndrome (45 cases), isolated CHD (296 cases), and CHD with multiple anomalies (92 cases). The increase in brain weight in Down syndrome was similar to control standards up to 1 year of age, after which it was less than normal. Among the three groups, there were differences in frequency in cyanotic CHD, history of operation, and macroscopic and microscopic brain malformations. The incidence of calcification in the brain was increased in Down syndrome. Nine children out of the total cohort had cerebrovascular abnormalities. Although CHD is frequent in Down syndrome, the cerebrovasculature is spared; only infrequent minor abnormalities of the circle of Willis were detected.

Institutional address: Department of Pathology (Neuropathology) University of Toronto Canada.

*****PEDIATRICS IN REVIEW*****

(REFERENCE 77 OF 91) 90017156

Clark EB Cogenital cardiovascular defects in infants with Down syndrome.

In: Pediatr Rev (1989 Oct) 11(4):99-100

ISSN: 0191-9601

[No Abstract Available]

*****PEDIATRICS*****

(REFERENCE 78 OF 91) 78136351

Feinglod M Down's syndrome and heart surgery [letter]

In: Pediatrics (1978 Feb) 61(2):331

ISSN: 0031-4005

[No Abstract Available]

(REFERENCE 79 OF 91) 77057127

Greenwood RD Nadas AS The clinical course of cardiac disease in Down's syndrome.

In: Pediatrics (1976 Dec) 58(6):893-7

ISSN: 0031-4005

There was 230 patients with heart disease among 369 infants and children with Down's syndrome. The majority exhibited defects of the endocardial cushion variety and approximately one quarte had complete atrioventricular canals (CAVC). Pulmonary artery hypertension was uniform in catheterized patients in this latter group and frequent in all left-to-right shunts. Medical and surgical mortality was high (33%) in these 230 children and especially in those with CAVC and tetralogy of Fallot. Only 4% (76 of 1,916) of infants with critical heart disease in New England had Down's syndrome and the most frequent lesion encountered was complete atrioventricular canal.

*****PRENATAL DIAGNOSIS*****

(REFERENCE 80 OF 91) 89098760

Coerdt W Rehder H Gebauer HJ Holzgreve W Klink F Miny P Schulze B Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation.

In: Prenat Diagn (1988 Nov) 8(9):647-59

ISSN: 0197-3851

Cardiac defects were studied in five chromosomally abnormal embryos of 10-14 weeks' gestation by free-hand microdissection of hearts measuring 2.5-6 mm in diameter. The type of cardiac malformation alone or in association with other anomalies helped to confirm the chromosome diagnosis established prenatally by chorionic villus sampling or after spontaneous abortion. It was suggestive of a chromosomal disorder in one case in which cytogenetic investigation had failed.

Institutional address: Institut fur Humangenetik Medizinischen Universitat zu Lubeck F.R.G.

*****PROGRESS IN CLINICAL AND BIOLOGICAL RESEARCH*****

(REFERENCE 81 OF 91) 92141254

Kirby ML Neural crest and the morphogenesis of Down syndrome with special emphasis on cardiovascular development.

In: Prog Clin Biol Res (1991) 373:215-25

ISSN: 0361-7742

[No Abstract Available]

Institutional address: Department of Anatomy Medical College of Georgia Augusta 30912-2000.

(REFERENCE 82 OF 91) 92141253

Buselmaier W Bacchus C Sterz H Genesis and systematization of cardiovascular anomalies in murine trisomy 16.

In: Prog Clin Biol Res (1991) 373:203-14

ISSN: 0361-7742

On account of genetic homologies trisomy 16 in the mouse is regarded as an animal model of Down's syndrome. A detailed evaluation of the cardiovascular system in 109 fetuses with trisomy 16 and 422 balanced siblings was performed in order to systematize the cardiovascular anomalies and to elucidate the pathogenetic mechanisms responsible for their formation. 92% of fetuses with experimentally induced trisomy 16 exhibited cardiovascular anomalies. The most common types of anomalies were hypoplasia and aplasia of the aortic arch, which appeared in 85% of the fetuses. Situs inversus of the aortic arch system was remarkably frequent (20%). Hypoplasia or aplasia of the pulmonary artery was seen in 10% of the fetuses. A too proximal insertion of the pulmonary artery into the ascending aorta was observed in 8% of the fetuses.

Institutional address: Institute for Human Genetics and Anthropology University of Heidelberg Federal Republic of Germany.

*****RHODE ISLAND MEDICAL JOURNAL*****

(REFERENCE 83 OF 91) 70112418

Hegde KK Monoclonal gammopathy, thyroid crisis and congenital heart disease in a patient with trisomy syndrome (Down's syndrome or mongolism).

In: R I Med J (1970 Feb) 53(2):102-4

ISSN: 0035-4627

[No Abstract Available]

*****SINGAPORE MEDICAL JOURNAL*****

(REFERENCE 84 OF 91) 91081835

Hoe TS Chan KC Boo NY Cardiovascular malformations in Malaysian neonates with Down's syndrome.

In: Singapore Med J (1990 Oct) 31(5):474-6

ISSN: 0037-5675

A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome.

Institutional address: Department of Paediatrics Faculty of Medicine National University of Malaysia Jalan Raja Muda Kuala Lumpur.

*****SOUTHERN MEDICAL JOURNAL*****

(REFERENCE 85 OF 91) 87292313

Noonan JA Todd EP Norman S Bacdayan CB Swift LJ Mier RJ Kilner JF Engelberg J Down's syndrome [clinical conference]

In: South Med J (1987 Aug) 80(8):1016-23

ISSN: 0038-4348

We discuss the ethical, psychosocial, economic, and medical dimensions of the treatment and management of a child with Down's syndrome and a congenital heart defect.

(REFERENCE 86 OF 91) 94294862

Wells GL Barker SE Finley SC Colvin EV Finley WH Congenital heart disease in infants with Down's syndrome.

In: South Med J (1994 Jul) 87(7):724-7

ISSN: 0038-4348

Medical records of 118 newborn infants with Down's syndrome were reviewed to document the types of congenital heart disease (CHD) in those having echocardiography. Of 102 infants having echocardiography, 49 (48%) had heart defects; 47 of these had trisomy 21 and 2 had unbalanced translocation karyotypes. Of the 53 (52%) who did not have heart defects, all had trisomy except 1 with a mosaic karyotype and 1 with a translocation karyotype. The most common heart malformation was an atrioventricular canal, followed in frequency by ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot. Benefits of echocardiography in such infants are early detection of CHD, with aggressive management to prevent future complications, and reassurance to parents if the infant does not have CHD.

Institutional address: Laboratory of Medical Genetics University of Alabama at Birmingham 35294.

*****THORACIC AND CARDIOVASCULAR SURGEON*****

(REFERENCE 87 OF 91) 90141617

Baciewicz FA Jr Melvin WS Basilius D Davis JT Congenital heart disease in Down's syndrome patients: a decade of surgical experience.

In: Thorac Cardiovasc Surg (1989 Dec) 37(6):369-71

ISSN: 0172-6137

Patients with Down's syndrome represent a significant subset of patients with congenital heart disease. Fifty-five patients with Down's syndrome have undergone surgical treatment for congenital heart disease at our institution in the past decade. Twenty-six had atrioventricular canal, 11 had ventricular septal defect, 7 had secundum atrial septal defect, 7 had tetralogy of Fallot, 3 had primum atrial septal defect and 1 patient had double outlet right ventricle. The thirty day mortality following operative intervention was 16.4%. Mortality was highest for tetralogy of Fallot followed by atrioventricular canal and ventricular septal defect. Long term mortality for all lesions was 27.3% over our follow-up period which averaged 33 months. Thirty day mortality compared similarly to previous reports of surgically treated Down's syndrome patients. When compared to our patients without Down's syndrome, the Down's population did not exhibit an increased risk for surgical treatment of congenital heart disease.

Institutional address: Department of Surgery Medical College of Ohio Toledo.

*****THORAX*****

(REFERENCE 88 OF 91) 72157183

Altman DB Anagnostopoulos CE Kittle CF Hypoplasia of the left first rib in a child with Down's syndrome and an endocardial cushion defect.

In: Thorax (1972 Jan) 27(1):100-1

ISSN: 0040-6376

[No Abstract Available]

(REFERENCE 89 OF 91) 85273278

Yamaki S Horiuchi T Takahashi T Pulmonary changes in congenital heart disease with Down's syndrome: their significance as a cause of postoperative respiratory failure.

In: Thorax (1985 May) 40(5):380-6

ISSN: 0040-6376

Biopsy or necropsy specimens of lung from 28 patients with congenital heart disease and Down's syndrome were studied to establish the cause of the postoperative respiratory failure often seen in such cases. Changes in lungs seen after operation included interstitial emphysema and overdistension of peripheral air spaces, associated with hypoplastic alveoli and deficient elastic fibres in the alveolar wall. In specimens taken before operation alveolar hypoplasia was common but interstitial emphysema or overdistension of lower airways was found only rarely. Findings suggest that alveolar hypoplasia is characteristic of Down's syndrome and that distension of peripheral air spaces or interstitial emphysema was due to artificial inflation of the lung during surgery. The severity of the lesions correlated significantly with the duration of artificial respiration and with the severity of the respiratory failure. Hypoplastic lung tissue in patients with Down's syndrome appears to be more susceptible to mechanical stress, and this is likely to be the cause of postoperative respiratory failure.

*****TRANSACTIONS OF THE MEDICAL SOCIETY OF LONDON*****

(REFERENCE 90 OF 91) 98267452

de Souza KA Sir John McNee bequest. Outcome of both cardiovascular and gastrointestinal surgical intervention in Down's syndrome.

In: Trans Med Soc Lond (1995-96) 112:115-8

ISSN: 0076-6011

[No Abstract Available]

*****TURKISH JOURNAL OF PEDIATRICS*****

(REFERENCE 91 OF 91) 98338324

Aynaci FM Orhan F Celep F Karaguzel A Frequency of cardiovascular and gastrointestinal malformations, leukemia and hypothyroidism in children with Down syndrome in Trabzon, Turkey.

In: Turk J Pediatr (1998 Jan-Mar) 40(1):103-9

ISSN: 0041-4301

This study was carried out to determine the frequency of congenital heart defects, cholelithiasis, hypothyroidism and leukemia in 31 children with Down syndrome. Twenty children (71.4%) had congenital heart defects. Ultrasonography was performed on 29 and two of these (6.9%) had cholelithiasis. Tests for hypothyroidism in 24 children identified hypothyroidism in three (12.5%). Leukemia was diagnosed in three children (10%) (one with congenital, two acquired). One patient with congenital hypothyroidism underwent surgery on the third day of life because of annular pancreas and duodenal atresia.

Institutional address: Department of Pediatrics Karadeniz Technical University Faculty of Medicine Trabzon Turkey.