Key result
Left outflow tract cardiac anomalies in children present as a varied spectrum and can be inherited in an autosomal dominant pattern, underscoring the importance of evaluating at-risk family members.
Understanding the genetics of left outflow tract disorders, including autosomal dominant inheritance of nonsyndromic forms, underscores the critical need for evaluating and following up with at-risk family members.
Supports family evaluation in left outflow tract anomalies; leaves open optimal screening protocols pending prospective validation.
PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY: 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.
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Melissa L. Loscalzo (2010) conducted a review in Left outflow tract anomalies. Left outflow tract cardiac anomalies in children present as a varied spectrum and can be inherited in an autosomal dominant pattern, underscoring the importance of evaluating at-risk family members.
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