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

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.

• Authors: Mark B Lewin, Kim L McBride, Ricardo Pignatelli, Susan Fernbach, Ana Combes, Andres Menesses, Wilbur Lam, Louis I Bezold, Norman Kaplan, Jeffrey A Towbin, John W Belmont
• Journal: Pediatrics (Pediatrics) Vol. 114 Issue 3 Pg. 691-6 (Sep 2004) ISSN: 1098-4275 [Electronic] United States
• PMID: 15342840 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Topics

• Aortic Coarctation (diagnostic imaging, genetics)
• Aortic Valve (abnormalities, diagnostic imaging)
• Aortic Valve Stenosis (congenital, diagnostic imaging, genetics)
• Echocardiography, Doppler
• Female
• Heart Defects, Congenital (diagnostic imaging, genetics)
• Humans
• Hypoplastic Left Heart Syndrome (diagnostic imaging, genetics)
• Male
• Parents
• Risk
• Siblings