The epidemiology and genetics of congenital heart disease

Congenital heart disease (CHD) is the most common major birth defect, but little is known about its cause. More recently, parametric linkage analyses of rare large families in combination with molecular investigations of genetic syndromes characterized in part by CHD are providing new insights into the molecular genetic cause of structural CHD. This article broadly reviews what is known about the epidemiology and genetic cause of structural CHD, with particular emphasis on the newest discoveries and their clinical significance.