Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.

ABSTRACT:

Background

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes.

Methods and results

We evaluated 8 family members across 4 generations by history, physical examination, electrocardiography, and echocardiography. Affected individuals presented with a pleitropic syndrome of progressive RCM, atrioventricular septal defects, and a high prevalence of atrial fibrillation. Exome sequencing of 5 affected members identified a single novel missense variant in a highly conserved residue of FLNC (filamin C; p.V2297M). <

SUBMITTER: Tucker NR 

PROVIDER: S-EPMC5802346 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature