New Genetic Insights into Congenital Heart Disease

Abstract

There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations.

Figure 1

Cardiac magnetic resonance imaging of adult with Turner syndrome revealing mild dilation of the aortic root and ascending aorta.

Figure 2

Cardiac magnetic resonance imaging of an adolescent with Marfan syndrome depicting moderate dilation of the aortic root.

Figure 3

Cardiac magnetic resonance imaging of adolescent with Loeys-Dietz syndrome revealing tortuosity of the infrarenal abdominal aorta.

Figure 4

Cardiac magnetic resonance imaging of a child with heterotaxy syndrome depicting a midline liver with symmetric hepatic venous drainage.

Figure 5

A) Cardiac magentic resonance imaging of an adolescent with dilated cardiomyopathy depicting a dilated left ventricle in end-diastole with thinning of the left ventricular septum and free wall.) Cardiac magnetic resonance imaging of an adolescent with hypertrophic cardiomyopathy depicting a thickened left ventricle with below normal left ventricular end diastolic dimension.) Cardiac magnetic resonance imaging of a child with left ventricular noncompaction depicting trabeculations in the left ventricle with deep recesses.) Echocardiogram of an adolescent with restrictive cardiomyopathy depicting severe dilation of both atria with preserved left ventricular size and thickness.