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At least 253 records · Page 14Linked to original sources
PubMed1994

Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.

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.

Child↗
PubMed1988

Update on counseling the family with a first-degree relative with a congenital heart defect.

Updated recurrence risks figures are presented for genetic counseling of families with a congenital heart defect (CHD) in a first-degree relative. Substantial changes are recommended for counseling the family in which a parent has CHD. The risk is much greater if it is the mother rather than the father who has the heart defect. The updated figures for recurrence risks in sibs have been revised, but are not greatly changed. Our central tenet in counseling is to base risk projections on the genetic and teratogenic history in the individual family and pregnancy.

Epidemiologic Methods↗
PubMed1989

[Morphologic changes of the coronary vessels in patients with congenital heart defects].

Results of the study of the structural changes in the coronary vessels at various levels of ramification in patients with heart defects are presented and their role in the heart compensation and decompensation is shown. 127 hearts with congenital defects and 45 control children's hearts were studied. It is established, by means of anatomical, histologic and morphometric methods, that the heart defects are followed by the hypertrophy of the heart regions involved functionally, this being combined with an adaptive and pathologic rearrangement of coronary arteries and veins. The former is expressed in the vessels hyperplasia, thickening of their wall, and in the appearance in the vascular wall of oblique and longitudinal smooth myocytes (this is of importance for the maintenance of the heart compensation state). The latter is manifested in sclerosis, sometimes also thrombosis of the coronary arteries and veins this creating the basis for the heart failure.

Cardiomegaly↗
PubMed2000

Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the splotch (Sp(2H))/Pax3 mouse mutant.

OBJECTIVE: Several mouse models of cardiac neural crest cell (NCC)-associated conotruncal heart defects exist, but the specific cellular and molecular defects within cardiac NCC morphogenesis remain largely unknown. Our objective was to investigate the underlying mechanisms resulting in outflow tract defects and why insufficient cardiac NCC reach the heart of the Splotch (Sp(2H)) mouse mutant embryo. METHODS: For this study we used in vitro cell culture techniques, in vivo mouse-chick chimeras, BrdU cell proliferation labeling, TUNEL labeling to visualize apoptosis and the molecular markers AP-2, Wnt-1 and Wnt-3a to characterize NCC morphogenesis in vivo. RESULTS: Expression of the NCC marker AP-2 revealed an extensive reduction in migratory NCC, however the rates of cell proliferation and apoptosis were unaffected, and do not account for the Sp(2H) NCC-associated heart defects. Further expression analysis revealed that Wnt-1, but not Wnt-3a, is expressed at decreased levels within Sp(2H) and that the cardiac NCC fail to undergo normal NC stem cell proliferative expansion prior to migration while still in the neural folds. However, when placed into a wild-type matrix or a tissue culture environment, the Sp(2H) cardiac NCC could migrate normally. Additionally, this reduced population of Sp(2H) NC stem cells do migrate properly within the Sp(2H) environment, as observed by neurofilament expression and cardiac innervation. CONCLUSIONS: Taken together, all these data indicate that the Sp(2H) defect is intrinsic to the NC stem cells themselves and that there is a decrease in the number of pre-migratory cardiac NCC that form. It appears that this decrease in NCC number is the primary defect that ultimately leads to a lack of a cardiac NCC-derived Sp(2H) outflow tract septum.

Animals↗
PubMed1990

Frequency of congenital heart defects in patients with hemophilia.

Most structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may postulate that vascular events, such as hemorrhage in the developing embryo, could influence morphogenesis of the heart. One method of studying this hypothesis is to determine the frequency of CHD in persons with heritable bleeding diatheses and their families. We reviewed retrospectively medical and family histories of 120 hemophilia A and 14 hemophilia B patients seen in our Genetics Department. The family histories included 1,126 maternal relatives of hemophiliac patients. We also reviewed the family histories of 138 patients with X-linked disorders who did not have bleeding diatheses or syndromes associated with CHD; these histories included 960 maternal relatives. There was one confirmed case of a CHD in 134 hemophilia patients, giving a frequency of 0.75% compared to 0.8% in the general population at birth. There was no apparent difference in the frequency of CHD in hemophilia A and B patients compared to the general population or in the relatives of hemophilia patients as compared to control individuals.

Female↗
PubMed1992

[Functional heterogeneity of the atrial myocardium in patients with congenital and acquired heart defects].

In experiments on atrium trabeculae the heterogeneity of myocardium contractile activity in patients operated on for inborn or acquired heart defects was studied. Contractile activity was assessed in isometric regime of muscle drugs work. The degree of functional heterogeneity was reported to differ in myocardium biopsies from patients with inborn or acquired heart defects. The difference was expressed in susceptibility to stimulating action or electrical impulses and in the degree of the change of myocardium contractile activity. The study of human myocardium functional heterogeneity is likely to present a new approach to increase efficacy of the work of pathologically changed heart muscle.

Biopsy↗
PubMed1999

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p.

Abnormalities, Multiple↗
PubMed1989

Late reoperation for systemic atrioventricular valve regurgitation after repair of congenital heart defects.

Since 1979, 17 infants and children have undergone reoperation for systemic atrioventricular (AV) valve regurgitation 6 weeks to 7 years after repair of congenital heart defects. Prior operations were repair of incomplete or complete AV canal (14 patients), Mustard repair of complex transposition of the great arteries including ventricular septal defect closure (2 patients), or first-stage operation for hypoplastic left heart (1 patient). Age ranged from 6 months to 11 years. In 12 of the 17 patients (10, AV canal; 1, transposition; 1, hypoplastic left heart), valve reconstruction was possible. Operative techniques included a combination of septal cleft approximation, leaflet resection, commissural annuloplasty, or ring annuloplasty. There were no operative deaths, and there were no reoperations in the repair group. The condition of these patients has improved. Follow-up ranges from 1 month to 9 years (mean follow-up, 4.1 years). Five of the 17 patients (4, AV canal; 1, transposition) underwent valve replacement. There were no operative deaths. Follow-up ranges from 3 to 8 years. Three patients later underwent re-replacement of the prosthetic valve; there was 1 late death. The condition of all 4 survivors is improved. Substantial AV valve regurgitation can occur months or years after repair of congenital heart defects. A combination of reconstructive techniques may be useful in preserving native valve function and avoiding systemic AV valve replacement.

Child↗
PubMed1992

The surgeon's use of epicardial echocardiography during repair of congenital heart defects.

Intraoperative echocardiography in the evaluation of congenital heart defects is a useful method to evaluate surgical anatomy, adequacy of repair, and ventricular performance. Since 1987, 733 patients have undergone epicardial echocardiography during repair. The routine use of this technique has led to the reduction in the need for both early and late reoperation.

Clinical Competence↗
PubMed1987

Using a national register for the epidemiological study of congenital heart defects.

Data validity is a fundamental problem in epidemiology. An objective of birth defect registers is the collection of high quality data, often from a number of sources, for use in epidemiological research. This paper examines the use of data from a national register in New Zealand in the study of congenital heart defects. The prevalence rates of congenital heart defects are shown to depend on the definition of the terms employed, the methods and completeness of the case ascertainment, the correctness of the diagnoses, the nature and size of the population under study, and the duration of followup. Recommendations are made for increasing the utility of this register in the study of this major group of malformations.

Autopsy↗
PubMed2000

Common congenital heart defects. The value of early detection.

BACKGROUND: Congenital heart disease forms the largest group of congenital anomalies and therapy is available for all conditions. The main challenge is the early detection and referral of such cases. OBJECTIVE: The important features of the commonest congenital heart defects are reviewed with an emphasis on the diagnostic features. The pivotal role of the general practitioner in the early detection and referral of these patients is emphasised. DISCUSSION: A high index of suspicion, general understanding of transitional changes, haemodynamic aspects, good listening skills and examination techniques with the appropriate use of investigative tools, especially echocardiography will enable the practitioner to have a higher success with early detection and screening of patients. Rapport with institutions and parents is of great importance.

Child↗
PubMed1976

Association of congenital heart defects with season and population density.

Infants born in New England with congenital heart defects were examined for association with time of year or population density. Moderate seasonal peaks in births were noted for complex ventricular septal defect, malposition defects, and transposition of the great arteries. Positive associations with population density were found for pulmonary atresia with ventricular septal defect, ventricular septal defect with secondary anomalies, and tricuspid atresia.

Adult↗
PubMed1992

Balloon pulmonary valvuloplasty in the management of cyanotic congenital heart defects.

Twenty-three children with cyanotic congenital heart defects, aged 3 days to 11.5 years, weighing 2.9 to 30 kg, underwent percutaneous balloon pulmonary valvuloplasty to improve pulmonary oligemia. The patients were divided into two groups: group I with intact ventricular septum and group II with ventricular septal defect. In 12 group I patients, there was an increase of systemic arterial oxygen saturation [83 +/- 8% (mean +/- SD) vs. 94 +/- 5%, P less than 0.001] and pulmonary-to-systemic flow ratio (0.7 +/- 0.1 vs. 1.0 +/- 0.2, P less than 0.001). Peak systolic pressure gradient across the pulmonary valve decreased (P less than 0.001) from 105 +/- 48 to 25 +/- 18 mm Hg. In 11 group II patients, arterial oxygen saturation (67 +/- 13 vs. 83 +/- 13%, P less than 0.01) and pulmonary-to-systemic flow ratio (0.7 +/- 0.4 vs. 1.2 +/- 0.5, P less than 0.02) increased following valvuloplasty. Peak systolic pressure gradient across the pulmonic valve (52 +/- 16 vs. 32 +/- 22 mm Hg, P less than 0.05) decreased while infundibular and total pulmonary outflow tract gradients were unchanged (P greater than 0.1). Immediate surgical intervention was avoided in all cases in both groups. On follow-up, 1 to 36 months after valvuloplasty, arterial oxygen saturation, pulmonary-to-systemic flow ratio, and pulmonary valve gradients remain improved in both groups. However, in group I, repeat balloon valvuloplasty was required in two children. In group II, six children with tetralogy of Fallot (TOF) underwent successful total surgical correction 4 months to 2 years after valvuloplasty.(ABSTRACT TRUNCATED AT 250 WORDS)

Catheterization↗
PubMed1994

Elevated MSAFP levels and congenital heart defects: lack of an association.

This study was undertaken to evaluate the relationship between elevated maternal serum alpha fetoprotein (MSAFP) levels and congenital heart defects. Thirty-two infants with isolated major congenital heart defects and whose mothers had had MSAFP screening were identified. In only one case was the MSAFP greater than 2.3 multiples of the median. A review of our experience with women with elevated MSAFP levels did not document a higher rate of congenital heart malformations than would be expected based on estimated frequencies in the general population.

Biomarkers↗
PubMed1998

The four-chamber view and its sensitivity in detecting congenital heart defects.

We sought to determine the sensitivity of detecting congenital heart defects with routine antenatal ultrasound including the four-chamber view in a population at low risk for cardiac anomalies. Neonatal outcome and anomaly databases were reviewed to identify cases of morphologic cardiac defects from 1988-1992. Of 176 cases identified, 62 (35%) had routine antenatal ultrasound including the four-chamber view. Thirteen of these 62 (21%) were diagnosed by ultrasound and 18 of the 116 (15%) total defects present were seen. Of these, only 16 of 25 (64%) defects reasonably expected to be seen by the four-chamber cardiac view alone were detected. The routine ultrasound four-chamber cardiac evaluation is limited and detection depends on the type of cardiac defect present.

Echocardiography↗
PubMed1996

Epidemiologic characteristics of conotruncal heart defects in California, 1987-1988.

In this population-based case-control study, we explored the association of selected parental and infant characteristics from the birth certificates of children with conotruncal heart defects. We compared 252 cases to a random sample of 5,000 nonmalformed infants from a cohort of 341,839 California live births for 1987-1988. The prevalence of conotruncal defects was 0.732 per 1,000 total births. A decreased risk (OR = 0.55, 95% CI0.33-0.89) for delivering infants with conotruncal defects was found among mothers born in Mexico compared to mothers born in California. An increased risk was observed for Native American mothers compared to non-Hispanic whites (OR = 2.6, 95% CI 1.1-6.0). We also compared risks associated with the individual diagnoses that comprise the group of conotruncal defects. Only minor differences in risk estimates between the anatomic diagnoses were observed, lending support to the methodologic approach of using conotruncal defects as a single category of heart defects in etiologic investigations.

California↗