Int J Cardiol. 2009 Nov 12;137(3):e81-3. doi: 10.1016/j.ijcard.2009.06.016. Epub 2009 Jul 19.
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.
心尖球形综合征(TTC)是一种最近才被认识到的类似于急性心肌梗死的心脏疾病实体,常影响绝经后妇女,由先前的情绪或身体应激引发。TTC 的发病机制尚不清楚,个体中 TTC 的复发和家族易感性都存在。TTC 急性期心脏基因的表达谱分析还不够充分,是未来研究的一个组成部分。我们首次报告了一名 TTC 女性患者,她碰巧是 FMR1 基因突变的携带者,等位基因大小介于 40-55 个三核苷酸重复之间的中间大小。