Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy.

摘要: Idiopathic dilated cardiomyopathy (IDC), a treatable condition characterized by left ventricular dilatation and systolic dysfunction of unknown cause, has only recently been recognized to have genetic etiologies. Although familial (FDC) was thought be infrequent, it is now believed that 30-50% cases IDC may familial. Echocardiographic electrocardiographic (ECG) screening first-degree relatives individuals with FDC indicated because detection treatment are possible prior the onset advanced, symptomatic disease. However, such often creates uncertainty anxiety surrounding significance results. Furthermore, demonstrates incomplete penetrance, variable expression, significant locus allelic heterogeneity, making counseling complex. The provision for will require collaboration between cardiologists genetics professionals, also improve recognition FDC, availability support services, overall outcomes patients families.