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[肥厚型心肌病与转甲状腺素蛋白淀粉样变性病——临床实践的最新综述]

[Hypertrophic cardiomyopathies and ATTR amyloidosis - a current review for clinical practice].

作者信息

Tschöpe Carsten, Elsanhoury Ahmed, Diekmann Sonja, Kühl Uwe

机构信息

Berlin Institute of Health at Charité (BIH), Universitätsmedizin Berlin, BIH Center for Regenerative Therapies (BCRT), Berlin, Germany.

Department of Internal Medicine and Cardiology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany.

出版信息

Dtsch Med Wochenschr. 2022 Sep;147(17):1127-1134. doi: 10.1055/a-1744-3126. Epub 2022 Aug 28.

DOI:10.1055/a-1744-3126
PMID:36030786
Abstract

Cardiomyopathies include dilated and restrictive cardiomyopathies as well as the various forms of hypertrophic cardiomyopathies (HCM). By definition, HCM is considered to occur when left ventricular wall thickness is ≥ 15 mm. This may be masked by genetic sarcomeric diseases, storage diseases, or syndromes. In clinical practice, sarcomere mutations and the cardiac amyloidoses are of particular interest because they are not always easy to distinguish from each other and early diagnosis of the disease is important for prognosis.

摘要

心肌病包括扩张型心肌病、限制型心肌病以及各种形式的肥厚型心肌病(HCM)。根据定义,当左心室壁厚度≥15毫米时,即被认为发生了肥厚型心肌病。这可能会被遗传性肌节疾病、贮积病或综合征所掩盖。在临床实践中,肌节突变和心脏淀粉样变性尤其值得关注,因为它们并不总是易于相互区分,而疾病的早期诊断对预后很重要。

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