Cardiomyopathy, familial restrictive

Restrictive cardiomyopathy (RCM) is the rarest form of cardiomyopathy, characterized by dilated atria, increased ventricular stiffness with normal ventricular wall thickness and systolic function. The sudden cardiac death or a life-threatening cardiac event due to ventricular arrhythmias or heart block is common, as is heart failure; death occurs within a few years of diagnosis. RCM usually has autosomal dominant inheritance, but in rare cases autosomal recessive, X-linked and mitochondrial-transmitted disease also occurs. Most identified genes encode sarcomere or Z-disk proteins, such as TNNI3, TNNT2, MYH7, ACTC1, TPM1, MYL3, and MYL2. Z-disk protein-encoding genes, including MYPN, TTN, BAG3 and FLNC have also been identified. Missense variants in DES have been identified in several families with desmin-related myopathy, which can present with RCM, with or without skeletal myopathy and/or atrioventricular block (PMID:25186923, PMID:26666891).


Interactions50Proteins/Genes35Chemical compounds/drugs0
Biological Process(GO)0Phenotype8

Biological Process(GO)

Chemical compounds/drugs