Key result
Triple gene variants in TNNI3, TMEM43, and MYBPC3 linked to severe HCM and heart failure.
Case Report (n=1)
The presence of multiple genetic variants in sarcomere-related genes may contribute to a more severe and early-onset clinical phenotype in hypertrophic cardiomyopathy.
Should not yet change practice in familial HCM; leaves open the role of multiple variants in prognosis.
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, caused mainly by variations in sarcomere-related genes like MYH7, MYBPC3, and TTN. Its clinical presentation ranges from asymptomatic to sudden cardiac death, with severity influenced by the number and type of genetic variants. Most variants are single, but multiple variants can occur, increasing severity. A 38-year-old man with HCM, presenting with heart failure and a family history of sudden death, was found to have triple gene variants in TNNI3, TMEM43, and MYBPC3. This case is noteworthy for early onset, multiple variants, and family history.
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Arava et al. (2026) conducted a case report in Hypertrophic cardiomyopathy (n=1). Triple gene variants in TNNI3, TMEM43, and MYBPC3 were identified in a 38-year-old man presenting with severe hypertrophic cardiomyopathy, heart failure, and a family history of sudden death.
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