A missense mutation in cTnT disrupts energy metabolism, providing a distinct cellular mechanism for cardiomyopathy and sudden cardiac death in patients with familial HCM.
It has long been noted that while patients with familial hypertrophic cardiomyopathy due to cardiac troponin T (cTnT) mutations often suffer sudden cardiac death, they do not develop significant ventricular hypertrophy, suggesting that a distinct cellular mechanism apart from alterations in myocardial contractility is responsible. A new study has revealed that a single missense mutation in cTnT causes a striking disruption to energy metabolism, leading to cardiomyopathy.
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Schwartz et al. (2003) studied this question.
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