Abstract
Familial cardiomyopathy is a disease of the sarcomere that affects the structure and function in the heart and has an extreme range of phenotypes. Among the millions of affected individuals, patients with hypertrophic (HCM), dilated (DCM) or left ventricular non-compaction (LVNC) cardiomyopathy can experience functional and morphologic changes of the heart, which lead to sudden death in the most detrimental cases. TNNC1, which codes for cardiac troponin C (cTnC), is a sarcomere gene associated with cardiomyopathies in which probands exhibit young age of presentation and high death, transplant or ventricular fibrillation events relative to TNNT2 and TNNI3 probands.
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