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Disease features and management of cardiomyopathies in women
Heart Failure Reviews ( IF 4.6 ) Pub Date : 2024-02-03 , DOI: 10.1007/s10741-024-10386-x
Alberto Aimo , Paolo Morfino , Chiara Arzilli , Giuseppe Vergaro , Valentina Spini , Iacopo Fabiani , Vincenzo Castiglione , Claudio Rapezzi , Michele Emdin

Over the last years, there has been a growing interest in the clinical manifestations and outcomes of cardiomyopathies in women. Peripartum cardiomyopathy is the only women-specific cardiomyopathy. In cardiomyopathies with X-linked transmission, women are not simply healthy carriers of the disorder, but can show a wide spectrum of clinical manifestations ranging from mild to severe manifestations because of heterogeneous patterns of X-chromosome inactivation. In mitochondrial disorders with a matrilinear transmission, cardiomyopathy is part of a systemic disorder affecting both men and women. Even some inherited cardiomyopathies with autosomal transmission display phenotypic and prognostic differences between men and women. Notably, female hormones seem to exert a protective role in hypertrophic cardiomyopathy (HCM) and variant transthyretin amyloidosis until the menopausal period. Women with cardiomyopathies holding high-risk features should be referred to a third-level center and evaluated on an individual basis. Cardiomyopathies can have a detrimental impact on pregnancy and childbirth because of the associated hemodynamic derangements. Genetic counselling and a tailored cardiological evaluation are essential to evaluate the likelihood of transmitting the disease to the children and the possibility of a prenatal or early post-natal diagnosis, as well as to estimate the risk associated with pregnancy and delivery, and the optimal management strategies.



中文翻译:

女性心肌病的疾病特征和治疗

在过去的几年里,人们对女性心肌病的临床表现和结果越来越感兴趣。围产期心肌病是唯一女性特有的心肌病。在 X 连锁传播的心肌病中,女性不仅是该疾病的健康携带者,而且由于 X 染色体失活的异质模式,可以表现出从轻微到严重的广泛临床表现。在具有母系传递的线粒体疾病中,心肌病是影响男性和女性的全身性疾病的一部分。甚至一些常染色体传播的遗传性心肌病也显示出男性和女性之间的表型和预后差异。值得注意的是,女性激素似乎在肥厚型心肌病 (HCM) 和变异型运甲状腺素蛋白淀粉样变性中发挥保护作用,直至绝经期。患有具有高风险特征的心肌病的女性应转诊至三级中心并进行个体评估。由于相关的血流动力学紊乱,心肌病可能对怀孕和分娩产生不利影响。遗传咨询和量身定制的心脏病学评估对于评估将疾病传播给儿童的可能性以及产前或产后早期诊断的可能性,以及估计与怀孕和分娩相关的风险以及最佳管理至关重要策略。

更新日期:2024-02-04
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