Aimo Alberto, Morfino Paolo, Arzilli Chiara, Vergaro Giuseppe, Spini Valentina, Fabiani Iacopo, Castiglione Vincenzo, Rapezzi Claudio, Emdin Michele
Scuola Superiore Sant'Anna, Pisa, Italy.
Cardiology Division, Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
Heart Fail Rev. 2024 May;29(3):663-674. doi: 10.1007/s10741-024-10386-x. Epub 2024 Feb 3.
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.
在过去几年中,人们对女性心肌病的临床表现和预后越来越感兴趣。围产期心肌病是唯一一种女性特有的心肌病。在X连锁遗传的心肌病中,女性并非该疾病的单纯健康携带者,由于X染色体失活模式的异质性,她们可能表现出从轻度到重度的广泛临床表现。在线粒体母系遗传疾病中,心肌病是一种影响男性和女性的全身性疾病的一部分。甚至一些常染色体遗传的遗传性心肌病在男性和女性之间也表现出表型和预后差异。值得注意的是,在更年期之前,女性激素似乎对肥厚型心肌病(HCM)和变异型转甲状腺素蛋白淀粉样变性具有保护作用。具有高危特征的心肌病女性应转诊至三级中心并进行个体化评估。由于相关的血流动力学紊乱,心肌病可能对妊娠和分娩产生不利影响。遗传咨询和针对性的心脏评估对于评估疾病传给孩子的可能性、产前或产后早期诊断的可能性、估计与妊娠和分娩相关的风险以及最佳管理策略至关重要。