Detection of FMR1-gene in Takotsubo cardiomyopathy: a new piece in the puzzle

Abstract

Takotsubo cardiomyopathy (TTC) is a cardiac entity appreciated only recently mimicking acute myocardial infarction, often affects post-menopausal women and is triggered by preceding emotional or physical stress. Pathogenesis of TTC is unknown, recurrence of TTC in one individual and familial predisposition occurs. Expression profiling of cardiac genes in the acute phase of TTC are not enough analyzed and are a component of future research. We report for the first time on a female individual with TTC, who happened to be carrier of an FMR1 gene mutation, alleles of an intermediate size between 40-55 triplet premutations.