Abstract
Taylor et al (Circulation 2011;124:876, PMID 21810661) evaluated titin (TTN) as a candidate arrhythmogenic right ventricular cardiomyopathy (ARVC) gene. Eight unique TTN variants were detected in 7 families, including a prominent Thr2896Ile mutation that showed complete segregation with the ARVC phenotype in 1 large family. The phenotype of TTN variant carriers was characterized by a history of sudden death, progressive myocardial dysfunction causing death or heart transplantation, frequent conduction disease, and incomplete penetrance. The authors conclude that titin mutations can cause ARVC. Structural impairment of the titin spring is a likely cause of ARVC and constitutes a novel mechanism underlying myocardial remodeling and sudden cardiac death.
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