Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene

One of the essential homeobox transcription factors orchestrating cardiac embryologic development isNKX2-5(1). Mutations inNKX2-5 were initially discovered in inherited atrial septal defect (ASD) associated with atrioventricular block (AVB)(2), but were further found linked to other congenital heart  defects and cardiomyopathies. However, it remains difficult to have a clear idea of the cardiac abnormalities caused byNKX2-5 mutations in large populations.
Source: Journal of the American College of Cardiology - Category: Cardiology Source Type: research