Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy, characterized by restricted ventricular filling and reduced diastolic volume with normal systolic function and normal or almost normal myocardial thickness. The disorder has an unfavorable prognosis, especially if it already manifests during childhood. In that case, heart transplantation is 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, including troponin T (TNNT2), alpha-cardiac-actin (ACTC1), and desmin (DES) in RCM with AV block.
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