Peripartum and Idiopathic Cardiomyopathy Share Similar Genetic Predisposition围产期和原发性心肌病具有类似遗传易感性

A US study in 172 women with peripartum cardiomyopathy identified 26 distinct, rare truncating variants in eight genes (15%). That was significantly higher than that in a reference population of 60,706 persons (4.7%) but was similar to that in a cohort of patients with dilated cardiomyopathy (55 of 332 patients [17%]). Two thirds of identified truncating variants were in TTN, as seen in 10% of the patients and in 1.4% of the reference population; almost all TTN variants were located in the titin A-band. Seven of the TTN truncating variants were previously reported in patients with idiopathic dilated cardiomyopathy. Other factors must play into the condition along with the genetic predisposition. Source: http://www.nejm.org/美国一项研究在172名围产期心肌病妇女的八个基因中确定了26个（15％）独特且罕见的截短变异，显著高于60706名参照群体（4.7％), 而与一组患有扩张型心肌病者类似（332名中55个[17％]）。确定的截短变异中三分之二位于TTN，即见于10％的患者和1.4％的参照群体; 几乎所有的TTN变异均位于肌联蛋白A段。其中7个TTN截短变异先前曾报道于原发性扩张型心肌病。伴随着遗传倾向，其他因素一定也发挥作用。来源：http://www.nejm.org/