Gene Analysis of Four Families with Severe Peripartum Cardiomyopathy Reveals Known Gene Mutations and Supports the Recent Call for Screening.

IF 1.9 4区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Reviews in cardiovascular medicine Pub Date : 2024-11-14 eCollection Date: 2024-11-01 DOI:10.31083/j.rcm2511399
Mengmeng Li, Kaili Yin, Liang Chen, Jiazhen Chang, Na Hao
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引用次数: 0

Abstract

Background: Peripartum cardiomyopathy (PPCM) is a rare disease that causes maternal morbidity and mortality worldwide. However, the etiology of PPCM is still unclear, and the rate of recovery varies between patients. Understanding the genetic factors underpinning PPCM may provide new insights into its pathogenesis.

Methods: This genetic study screened six patients with severe PPCM and their family members using a panel of 204 genes associated with inherited cardiomyopathy.

Results: The six probands progressed to severe cardiac dysfunction during follow-up, with a low left ventricular ejection fraction of <30% and a significant increase in left ventricular end-diastolic diameter. Genetic analysis showed that four of the six probands had pathogenic mutations. No specific mutation was identified in the other two probands. Further screening of the probands' families identified that eight family members shared the same mutation with their probands. The total positive genetic mutation rate was 46% (12/26). Among those with genetic mutations, women who had pregnancies showed symptoms of heart disease.

Conclusions: For PPCM patients with a genetic predisposition, pregnancy may exert pathogenic effects in terms of disease initiation and progression. Patients with PPCM with a first-degree relative diagnosed with inherited cardiomyopathy may benefit from genetic counselling.

四个严重围产期心肌病家族的基因分析揭示了已知的基因突变,并支持最近筛查的呼吁。
背景:围产期心肌病(PPCM)是世界范围内引起产妇发病和死亡的一种罕见疾病。然而,PPCM的病因尚不清楚,患者之间的恢复率各不相同。了解支持PPCM的遗传因素可能为其发病机制提供新的见解。方法:采用204个与遗传性心肌病相关的基因筛选6例重度PPCM患者及其家族成员。结果:6名先知者随访期间进展为严重心功能障碍,左室射血分数低。结论:对于具有遗传易感性的PPCM患者,妊娠可能在发病和进展方面发挥致病作用。PPCM患者的一级亲属诊断为遗传性心肌病可能受益于遗传咨询。
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来源期刊
Reviews in cardiovascular medicine
Reviews in cardiovascular medicine 医学-心血管系统
CiteScore
2.70
自引率
3.70%
发文量
377
审稿时长
1 months
期刊介绍: RCM is an international, peer-reviewed, open access journal. RCM publishes research articles, review papers and short communications on cardiovascular medicine as well as research on cardiovascular disease. We aim to provide a forum for publishing papers which explore the pathogenesis and promote the progression of cardiac and vascular diseases. We also seek to establish an interdisciplinary platform, focusing on translational issues, to facilitate the advancement of research, clinical treatment and diagnostic procedures. Heart surgery, cardiovascular imaging, risk factors and various clinical cardiac & vascular research will be considered.
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