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[Epidemiological and genetic study of 3 congenital cardiopathies with neonatal disclosure]
Insights
This familial study investigated congenital heart diseases, finding low recurrence rates in siblings for transposition of the great vessels and coarctation of the aorta, but higher rates for hypoplastic left heart syndrome, suggesting complex etiologies.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Epidemiology
Context:
- Congenital heart diseases (CHDs) represent a significant public health concern.
- Understanding the familial recurrence and underlying etiologies of CHDs is crucial for genetic counseling and risk assessment.
- This study focuses on three specific CHDs: transposition of the great vessels (TGV), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS).
Purpose:
- To determine the familial recurrence rates of TGV, CoA, and HLHS in siblings of affected probands.
- To explore the potential genetic and environmental factors contributing to the etiology of these CHDs.
- To investigate the heterogeneity in the underlying mechanisms of TGV, CoA, and HLHS.
Summary:
- A familial study involving 382 probands with TGV, 348 with CoA, and 143 with HLHS assessed sibling recurrence.
- Sibling recurrence rates were low for TGV (0.15%) and CoA (0.42%), but higher for HLHS (3.41%), with an overall CHD recurrence of 7.32%.
- The etiology of TGV involves minor genetic and significant tetratogenetic factors. HLHS and CoA are heterogeneous, with potential shared hereditary and non-hereditary factors.
Impact:
- Provides crucial data for genetic counseling regarding recurrence risks of specific CHDs.
- Highlights the etiological heterogeneity of HLHS and CoA, suggesting distinct underlying mechanisms.
- Suggests the potential involvement of common, possibly non-hereditary, factors in HLHS and CoA development.
Abstract:
A familial study was undertaken on 382 probands with transposition of the great vessels, 348 with coarctation of the aorta and 143 with hypoplastic left heart syndrome. It allowed to assess in sibs the frequency of identical congenital heart diseases (respectively 0.15, 0.42 and 3.41%) and of all 7.32%). The epidemiological study did not provide further data worth noting. At the origin of the transposition of the great vessels, tetratogenetic factors are added to genetic factors, whose part is of little importance; hypoplastic left heart syndromes are heterogeneous (recessive autosomal transmission, chromosome abnormalities, sporadic cases). Coarctations of the aorta, which are dependent on different mechanisms are also heterogeneous. It is possible that common factors, whether hereditary or not, play a part on one hand in hypoplastic left heart syndromes and coarctations of the aorta, and, on the other hand, in some congenital heart diseases.