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Congenital heart disease associated with well-characterized genetic syndromes

Abstract:

Aim This chapter aims to describe CHD in well-characterized syndromes and update the possible causes of genetic origin. Discussion According to etiology in more than 50% of cases is unknown. Genes contribute to ~ 45% of cases of sporadic and syndromic CHD. De novo point mutations collectively contribute ~10% of severe CHD. In familial CHD with three generations, at least 30% of pathogenic variants are determined by exome sequencing. Usually, both monogenic familiar and sporadic CHD are caused by the effect of the same genes. More research is required to establish the differences between the two groups. Conclusion We show 46 well-characterized genetic syndromes presenting congenital heart defects, which vary phenotypically among them. The genetic and molecular mechanisms are not well described and require future research. The most common CHD are atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriousus, conotruncal defects, and left ventricular outflow tract obstruction.