alexa Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.


Journal of Clinical & Experimental Cardiology

Author(s): Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A,

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Abstract OBJECTIVE: Left ventricular outflow tract obstructive (LVOTO) malformations are a leading cause of infant mortality from birth defects. Genetic mechanisms are likely, and there may be a higher rate of asymptomatic LVOTO anomalies in relatives of affected children. This study sought to define the incidence of cardiac anomalies in first-degree relatives of children with congenital aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS). METHODS: A total of 113 probands with a nonsyndromic LVOTO malformation of AVS (n = 25), BAV (n = 3), CoA (n = 52), HLHS (n = 30), and aortic hypoplasia with mitral valve atresia (n = 2) were ascertained through chart review or enrolled at the time of diagnosis. Echocardiography was performed on 282 asymptomatic first-degree relatives. RESULTS: Four studies had poor acoustic windows, leaving 278 studies for analysis. BAV were found in 13 (4.68\%) first-degree relatives. The relative risk of BAV in the relatives was 5.05 (95\% confidence interval: 2.2-11.7), and the broad sense heritability was 0.49, based on a general population frequency of 0.9\%. BAV was more common in multiplex families compared with sporadic cases. An additional 32 relatives had anomalies of the aorta, aortic valve, left ventricle, or mitral valve. CONCLUSIONS: The presence of an LVOTO lesion greatly increases the risk of identifying BAV in a parent or sibling, providing additional support for a complex genetic cause. The parents and siblings of affected patients should be screened by echocardiography as the presence of an asymptomatic BAV may carry a significant long-term health risk.
This article was published in Pediatrics and referenced in Journal of Clinical & Experimental Cardiology

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