Center for Inherited Heart Disease, Johns Hopkins University, 720 Rutland Avenue, Ross 1049, Baltimore, MD, 21205, USA.
Division of Cardiology, Medical University of South Carolina, Charleston, SC, USA.
J Cardiovasc Transl Res. 2017 Dec;10(5-6):437-445. doi: 10.1007/s12265-017-9764-y. Epub 2017 Aug 3.
Peripartum cardiomyopathy (PPCM) is an uncommon complication of pregnancy. Early case reports identified overlap between familial dilated cardiomyopathy (DCM) and PPCM, although the degree of overlap is largely unknown. Other evidence supporting a contribution from gene mutations in PPCM includes familial occurrence, genome-wide association studies, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. Murine models implicate the role of altered metabolism and increased free radical stress to the heart during pregnancy, which seems to be involved in the pathogenesis of this condition. Although the true incidence of genetic cardiomyopathy is not yet known among women with PPCM, there is substantial evidence demonstrating that at least 10-15% of affected women have a clear genetic contribution to their condition. With this in mind, family counseling, cascade phenotypic screening, and clinical genetic testing should be considered among women with PPCM.
围生期心肌病 (PPCM) 是妊娠的一种罕见并发症。早期病例报告表明，家族性扩张型心肌病 (DCM) 和 PPCM 之间存在重叠，但重叠程度尚不清楚。支持 PPCM 中基因突变起作用的其他证据包括家族性发病、全基因组关联研究、不同地区和种族之间的发病率不同，以及最近对 PPCM 女性基因突变基因面板的研究。鼠模型提示妊娠期间心脏代谢改变和自由基应激增加的作用，这似乎与这种疾病的发病机制有关。虽然 PPCM 女性中遗传性心肌病的真实发病率尚不清楚，但有大量证据表明，至少有 10-15% 的受影响女性的病情有明确的遗传因素。考虑到这一点，应该对 PPCM 女性进行家庭咨询、级联表型筛查和临床基因检测。
