Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

You are here: Molecular Genetics » Cardiomyopathy, familial restrictive form (RCM)

Cardiomyopathy, familial restrictive form (RCM) [I42.5]

OMIM numbers: 115210, 191044 (TNNI3), 612422, 191045 (TNNT2)

Dr. rer. nat. Christoph Marschall

Scientific Background

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy, characterized by restricted ventricular filling and reduced diastolic volume with normal systolic functioning and normal or nearly normal myocardial thickness. The disorder has an unfavourable prognosis, especially if it already manifests during childhood. Heart transplantation is therefore usually a necessary procedure. 

In a study, seven out of ten independent RCM patients displayed mutations in TNNI3. Other causative genes have been identified in single RCM cases. They include troponin T (TNNT2), alpha-cardiac-actin (ACTC1), and desmin (DES) in RCM with AV block.