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肌肉束缚的心脏。

The Muscle-Bound Heart.

作者信息

Refaat Marwan M, Fahed Akl C, Hassanieh Sylvana, Hotait Mostafa, Arabi Mariam, Skouri Hadi, Seidman Jonathan G, Seidman Christine E, Bitar Fadi F, Nemer Georges

机构信息

Cardiac Electrophysiology, Cardiology, Department of Internal Medicine, American University of Beirut Faculty of Medicine and Medical Center, PO Box 11-0236, Riad El-Solh, Beirut 1107 2020, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine and Medical Center, PO Box 11-0236, Riad El-Solh, Beirut 1107 2020, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon; Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.

Department of Genetics, Harvard Medical School, Boston, MA, USA; Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.

出版信息

Card Electrophysiol Clin. 2016 Mar;8(1):223-31. doi: 10.1016/j.ccep.2015.10.034.

Abstract

Hypertrophic cardiomyopathy (HCM) is a familial cardiac disease manifested in a wide phenotype and diverse genotype and, thus, presenting unpredictable risks mainly on young adults. Extensive studies are being conducted to categorize patients and link phenotype with genotype for a better management and control of the disease with all its complications. Because the full mechanisms behind HCM are still not revealed, therapeutics are not definitive. Further research is to be conducted for the generation of a complete picture and directed therapy for HCM.

摘要

肥厚型心肌病(HCM)是一种家族性心脏疾病,表现出广泛的表型和多样的基因型,因此主要给年轻人带来不可预测的风险。目前正在进行广泛研究,对患者进行分类,并将表型与基因型联系起来,以便更好地管理和控制该疾病及其所有并发症。由于HCM背后的完整机制仍未揭示,治疗方法并不确定。需要进一步开展研究,以全面了解HCM并进行针对性治疗。

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本文引用的文献

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Incidence and causes of sudden death in U.S. college athletes.美国大学生运动员猝死的发生率和原因。
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Hypertrophic cardiomyopathy.肥厚型心肌病。
Lancet. 2013 Jan 19;381(9862):242-55. doi: 10.1016/S0140-6736(12)60397-3. Epub 2012 Aug 6.
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Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.肥厚型心肌病 20 年后的遗传学:临床观点。
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