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围产期心肌病:迈向遗传学的更核心作用

Peripartum cardiomyopathy: moving towards a more central role of genetics.

作者信息

Cemin Roberto, Janardhanan Rajesh, Donazzan Luca, Daves Massimo

机构信息

Department of Cardiology, San Maurizio Regional Hospital of Bolzano, Italy.

出版信息

Curr Cardiol Rev. 2013 Aug;9(3):179-84. doi: 10.2174/1573403x113099990029.

DOI:10.2174/1573403x113099990029
PMID:23909634
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3780342/
Abstract

Peripartum cardiomyopathy (PCM) is a relatively rare disease with potentially devasting consequences requiring prompt identification and correct treatment. Overall prognosis is good in majority of the cases, although some patients may progress to irreversible heart failure. Early diagnosis is important and effective treatment reduces mortality rates and increases the chance of complete recovery of ventricular systolic function. The aetiology and pathogenesis seems to be multifactorial and poorly understood, with the available literature rather conflicting. In recent years, there has been increased interest in the role played by genetic predisposition in the development of PCM. It probably develops as a result of a complex interaction of pregnancy-associated factors and genetic factors and recently there have been many observations pointing out the central role played by a genetic predisposition. The direct and indirect observations on genetic susceptibility may offer new insights into the pathogenesis of PCM. However, larger studies are needed before advising routine genetic testing in these patients.

摘要

围产期心肌病(PCM)是一种相对罕见的疾病,可能产生严重后果,需要及时识别和正确治疗。尽管有些患者可能会发展为不可逆的心力衰竭,但大多数病例的总体预后良好。早期诊断很重要,有效的治疗可降低死亡率,并增加心室收缩功能完全恢复的机会。病因和发病机制似乎是多因素的,且了解甚少,现有文献相当矛盾。近年来,人们对遗传易感性在PCM发生发展中所起的作用越来越感兴趣。它可能是妊娠相关因素和遗传因素复杂相互作用的结果,最近有许多观察结果指出遗传易感性起着核心作用。关于遗传易感性的直接和间接观察可能为PCM的发病机制提供新的见解。然而,在建议对这些患者进行常规基因检测之前,还需要进行更大规模的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da7/3780342/af43290ae0a4/CCR-9-179_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da7/3780342/af43290ae0a4/CCR-9-179_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da7/3780342/af43290ae0a4/CCR-9-179_F1.jpg

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本文引用的文献

1
Diagnosis and management of peripartum cardiomyopathy.围产期心肌病的诊断与管理
Heart. 2011 Dec;97(23):1970-81. doi: 10.1136/heartjnl-2011-300349.
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Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy.甲状旁腺激素样激素(PTHLH)基因附近12号染色体p11.22位点在围产期心肌病中的全基因组显著性及复制研究
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为区域心力衰竭护理将遗传学情境化。
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Cardiovascular genetic medicine: evolving concepts, rationale, and implementation.心血管遗传医学:不断发展的概念、原理和实践。
J Cardiovasc Transl Res. 2008 Jun;1(2):137-43. doi: 10.1007/s12265-008-9031-3. Epub 2008 May 20.
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Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.围生期心肌病是家族性扩张型心肌病的一部分。
Circulation. 2010 May 25;121(20):2169-75. doi: 10.1161/CIRCULATIONAHA.109.929646. Epub 2010 May 10.
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Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.妊娠相关性或围产期心肌病中的罕见变异突变。
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8
Birthing the genetics of peripartum cardiomyopathy.揭开围产期心肌病的遗传学奥秘。
Circulation. 2010 May 25;121(20):2157-9. doi: 10.1161/CIRCULATIONAHA.110.956169. Epub 2010 May 10.
9
Evaluation of bromocriptine in the treatment of acute severe peripartum cardiomyopathy: a proof-of-concept pilot study.溴隐亭治疗急性重症围生期心肌病的疗效评价:一项概念验证性 pilot 研究。
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Bromocriptine treatment associated with recovery from peripartum cardiomyopathy in siblings: two case reports.溴隐亭治疗与同胞姐妹围产期心肌病康复相关:两例病例报告。
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