Genetics of Heart Failure in Congenital Heart Disease

Heart failure is a major problem in the patient with congenital heart disease. Normally interpreted as a sequela of surgical interventions or abnormal preoperative loading conditions, there is increasing evidence that congenital heart malformations and abnormal ventricular function can have the same underlying genetic cause. With the changing demographic characteristics and increasing complexity of care for patients with congenital heart disease, it can be anticipated that heart failure will be a rapidly growing concern in our field. In this article, we aim to give an overview of recent findings from mouse and human models that highlight shared pathways for the regulation of cardiac development and contractility, and their importance for medical care in the near future.     

Pharmacogenomics and Heart Failure in Congenital Heart Disease

Congenital heart disease (CHD) constitutes a lifelong challenge in heart failure management. Current therapy is based mainly on physiologic principles extrapolated from the management of left ventricular failure in adult populations with either ischemic or nonischemic cardiomyopathy. However, there is good evidence of genomic variability in the origin and progression of CHD that suggests the need for a individualized approach to treatment. The developing science of pharmacogenomics presents an opportunity for CHD management broadly, and especially in the context of heart failure. There is growing evidence that individualizing drug therapy for these patients might be beneficial, and that prediction of response to therapy might be possible by incorporating genomic data into the treatment algorithm for individual patients.