Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.

Background: The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases.

Methods: We report two large families with pleiotropic inherited cardiomyopathy.

Gain-of-function mutations in GATA6 lead to atrial fibrillation.

Background: The genetic basis of atrial fibrillation (AF) and congenital heart disease remains incompletely understood.

Objective: We sought to determine the causative mutation in a family with AF, atrial septal defects, and ventricular septal defects.

Methods: We evaluated a pedigree with 16 family members, 1 with an atrial septal defect, 1 with a ventricular septal defect, and 3 with AF; we performed whole exome sequencing in 3 affected family members.