Cardiovascular manifestations of myofibrillar myopathy.

Overview

Myofibrillar myopathy (MFM) is a rare autosomal dominant disorder characterized by cardiac and skeletal myopathy. Either of these can dominate in the clinical picture. It is associated with cardiomyopathy, arrhythmia and/or atrioventricular (AV) conduction defects. Myofibrillar myopathy is often an overlooked disorder because of its variable clinical presentation. We highlight the various cardiovascular manifestations of MFM that have been reported in the literature and address the importance of considering this syndrome in young patients presenting with idiopathic cardiomyopathy and/or AV conduction defects.