Article

Unmasking Supervillin <i>: SVIL</i> haploinsufficiency causes hypertrophic cardiomyopathy by impairing mechanotransduction and cellular energetics

2026-07-06

Abstract excerpt

<h4>Background</h4> Rare heterozygous loss-of-function (LoF) variants in SVIL , encoding the Z-disk and costameric protein supervillin, have recently been identified as a cause of hypertrophic cardiomyopathy (HCM). Although supervillin is implicated in actin-dependent mechanotransduction, the mechanisms linking SVIL deficiency to cardiomyopathy remain poorly understood. Homozygous LoF cause a novel skeletal Myo...

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Literature Corpus work: 4542922a-8840-5198-8104-6b08cf5de5bb
DOI: 10.64898/2026.07.01.735949

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