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

Mark B. Lewin, Kim L. McBride, Ricardo Pignatelli, Susan Fernbach, Ana Combes, Andres Menesses, Wilbur Lam, Louis I. Bezold, Norman Kaplan, Jeffrey Towbin, John W. Belmont

Research output: Contribution to journalArticle

78 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)691-696
Number of pages6
JournalPediatrics
Volume114
Issue number3
DOIs
StatePublished - Sep 1 2004

Fingerprint

Siblings
Hypoplastic Left Heart Syndrome
Aortic Coarctation
Aortic Valve Stenosis
Mitral Valve
Echocardiography
Infant Mortality
Aortic Valve
Acoustics
Heart Ventricles
Aorta
Parents
Confidence Intervals
Incidence
Health
Population

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. / Lewin, Mark B.; McBride, Kim L.; Pignatelli, Ricardo; Fernbach, Susan; Combes, Ana; Menesses, Andres; Lam, Wilbur; Bezold, Louis I.; Kaplan, Norman; Towbin, Jeffrey; Belmont, John W.

In: Pediatrics, Vol. 114, No. 3, 01.09.2004, p. 691-696.

Research output: Contribution to journalArticle

Lewin, MB, McBride, KL, Pignatelli, R, Fernbach, S, Combes, A, Menesses, A, Lam, W, Bezold, LI, Kaplan, N, Towbin, J & Belmont, JW 2004, 'Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions', Pediatrics, vol. 114, no. 3, pp. 691-696. https://doi.org/10.1542/peds.2003-0782-L
Lewin, Mark B. ; McBride, Kim L. ; Pignatelli, Ricardo ; Fernbach, Susan ; Combes, Ana ; Menesses, Andres ; Lam, Wilbur ; Bezold, Louis I. ; Kaplan, Norman ; Towbin, Jeffrey ; Belmont, John W. / Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. In: Pediatrics. 2004 ; Vol. 114, No. 3. pp. 691-696.
@article{c33c19b7dc0f4704ac1b38c70c028fac,
title = "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.",
author = "Lewin, {Mark B.} and McBride, {Kim L.} and Ricardo Pignatelli and Susan Fernbach and Ana Combes and Andres Menesses and Wilbur Lam and Bezold, {Louis I.} and Norman Kaplan and Jeffrey Towbin and Belmont, {John W.}",
year = "2004",
month = "9",
day = "1",
doi = "10.1542/peds.2003-0782-L",
language = "English (US)",
volume = "114",
pages = "691--696",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "3",

}

TY - JOUR

T1 - Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

AU - Lewin, Mark B.

AU - McBride, Kim L.

AU - Pignatelli, Ricardo

AU - Fernbach, Susan

AU - Combes, Ana

AU - Menesses, Andres

AU - Lam, Wilbur

AU - Bezold, Louis I.

AU - Kaplan, Norman

AU - Towbin, Jeffrey

AU - Belmont, John W.

PY - 2004/9/1

Y1 - 2004/9/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=14044270324&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=14044270324&partnerID=8YFLogxK

U2 - 10.1542/peds.2003-0782-L

DO - 10.1542/peds.2003-0782-L

M3 - Article

VL - 114

SP - 691

EP - 696

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 3

ER -