围产期心肌病的遗传多态性

I. Dewi, J. Nugroho
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引用次数: 1

摘要

围生期心肌病是一种罕见的心肌病。围产期心肌病是一种潜在威胁生命的妊娠相关疾病,通常发生在围产期,以左心室功能障碍和心力衰竭为特征。围产期心肌病的病因尚不清楚,但已经提出了几种机制,这些机制可能是多因素病因。早期的病例报告发现家族性扩张型心肌病和围产期心肌病有重叠,尽管重叠的程度在很大程度上是未知的。支持基因突变在围产期心肌病中起作用的证据包括全基因组关联研究、家族发生、不同地区和种族之间的可变患病率,以及最近对围产期心肌病妇女突变基因组的调查。虽然在围产期心肌病妇女中,遗传性心肌病的真正发病率尚不清楚,但有大量证据表明,遗传因素对她们的病情有影响。
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Genetic Polymorphism in Peripartum Cardiomyopathy
Peripartum cardiomyopathy is a rare type of cardiomyopathy. Peripartum cardiomyopathy is a potentially life-threatening pregnancy-associated disease that typically arises in the peripartum period and is marked with left ventricular dysfunction and heart failure. The cause of peripartum cardiomyopathy remains unclear, but several mechanisms have been proposed which indices a potentially multi-factorial etiologies. Early case reports identified overlap between familial dilated cardiomyopathy and peripartum cardiomyopathy, although the degree of overlap is largely unknown. Evidence supporting a contribution from gene mutations in peripartum cardiomyopathy includes genome-wide association studies, familial occurrence, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with peripartum cardiomyopathy. Although the true incidence of genetic cardiomyopathy is not yet known among women with peripartum cardiomyopathy, there is substantial evidence demonstrating that genetic contribution to their condition.
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