Left outflow tract anomalies in children

Abstract

To provide a discussion of the current knowledge of the genetics of left outflow tract of the heart, including the aortic stenosis, in children. It addresses the available means of diagnosis for syndromic and nonsyndromic left outflow tract abnormalities and implications for at-risk family members. Options for prenatal testing and recommendations for cardiac follow-up are presented. Left outflow tract cardiac anomalies in children present as a varied spectrum among and within families. Even nonsyndromic forms can be inherited in an autosomal dominant pattern. These can lead to significant complications in asymptomatic individuals, making diagnosis a challenge and underscoring the importance of evaluation of at-risk family members. Improved understanding of the genetics of both syndromic and nonsyndromic left outflow tract disorders is hoped to lead to improved identification of affected children and greater ongoing cardiac follow-up for those potentially at risk.