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Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.围生期心肌病的遗传学:现有知识、未来方向和临床意义。
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围产期心肌病的精准医学:通过基因组和表型整合推进诊断与管理

Precision medicine in peripartum cardiomyopathy: advancing diagnosis and management through genomic and phenotypic integration.

作者信息

Singh Ajeet, Irfan Hamza, Ali Tooba, Mughal Sanila, Shaukat Ayesha, Jawwad Mohammad, Akilimali Aymar

机构信息

Department of Internal Medicine, Dow University of Health Sciences, Karachi.

Department of Medicine, Shaikh Khalifa Bin Zayed Al Nahyan Medical and Dental College, Lahore, Pakistan.

出版信息

Ann Med Surg (Lond). 2024 Jul 1;86(8):4664-4667. doi: 10.1097/MS9.0000000000002329. eCollection 2024 Aug.

DOI:10.1097/MS9.0000000000002329
PMID:39118717
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11305805/
Abstract

Peripartum cardiomyopathy (PPCM) is a rare and life-threatening cardiac condition characterized by heart failure due to left ventricular systolic dysfunction, often developing in late pregnancy or the early postpartum period. Despite being a leading cause of maternal morbidity and mortality, clinical presentation of PPCM frequently overlaps with normal pregnancy-related physiological changes, causing diagnostic delays and increased complications. Current management strategies, primarily derived from general heart failure protocols, are evolving to address the unique aspects of PPCM. This includes the development of personalized medicine approaches that integrate genetic profiling, biomarker evaluation, and clinical phenotyping. Notable genes such as titin (TTN), Bcl2-associated athanogene 3 (BAG3), and lamin A/C (LMNA) are implicated in PPCM, revealing a complex genetic landscape similar to other cardiomyopathies. Biomarkers like N-terminal pro-brain-type natriuretic peptide (NT-proBNP) and cardiac troponin T (cTnT) are under investigation for their diagnostic and prognostic value, indicating that personalized treatments hold the promise of enhancing diagnostic precision and therapeutic outcomes by tailoring interventions to individual patient profiles. This review article aims to highlight how integrating genetic and phenotypic data can establish a novel framework for managing PPCM, potentially transforming treatment paradigms and improving long-term outcomes.

摘要

围产期心肌病(PPCM)是一种罕见且危及生命的心脏疾病,其特征是由于左心室收缩功能障碍导致心力衰竭,通常在妊娠晚期或产后早期发病。尽管PPCM是孕产妇发病和死亡的主要原因,但PPCM的临床表现常常与正常妊娠相关的生理变化重叠,导致诊断延迟和并发症增加。目前的管理策略主要源自一般心力衰竭方案,正在不断发展以应对PPCM的独特方面。这包括开发整合基因谱分析、生物标志物评估和临床表型分析的个性化医学方法。诸如肌联蛋白(TTN)、Bcl2相关抗凋亡基因3(BAG3)和核纤层蛋白A/C(LMNA)等显著基因与PPCM有关,揭示了与其他心肌病相似的复杂遗传格局。诸如N末端脑钠肽前体(NT-proBNP)和心肌肌钙蛋白T(cTnT)等生物标志物因其诊断和预后价值正在接受研究,这表明个性化治疗有望通过根据个体患者情况调整干预措施来提高诊断准确性和治疗效果。这篇综述文章旨在强调整合基因和表型数据如何能够建立一个管理PPCM的新框架,有可能改变治疗模式并改善长期预后。