Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.

IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI:10.1515/medgen-2025-2007
Gökhan Yigit, Silke Kaulfuß, Bernd Wollnik
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引用次数: 0

Abstract

Cardiomyopathies (CMs) are a clinically heterogeneous group of cardiovascular diseases characterized by structural and functional abnormalities of the heart muscle in the absence of coronary artery disease, hypertension, valve disease, or congenital heart disease as a leading cause. The phenotypic spectrum of CMs ranges from silent heart failure to symptomatic heart failure and sudden cardiac death, and CMs are one of the leading causes of cardiovascular morbidity worldwide. CMs are highly heritable, although a clear distinction between inherited and acquired forms remains challenging, particularly due to observed incomplete penetrance and variable expressivity of inherited CMs. Based on their specific morphological phenotypes and functional characteristics, CMs can be divided into at least 5 different subgroups: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and (left ventricular) non-compaction cardiomyopathy (LVNC), which show both clinical as well as genetic overlap. Since the identification of pathogenic variants in MYH7 as a genetic cause of HCM in 1990, enormous progress has been made in understanding genetic factors contributing to cardiomyopathies. Currently, over 100 genes have been associated with at least one of the CM subtypes, providing a deeper understanding of the cellular basis of genetic heart failure syndromes, unveiling new insights into the molecular biology of heart function in both health and disease, and, thereby, facilitating the development of novel therapeutic strategies and personalized treatment approaches.

了解遗传性心肌病:临床方面和遗传决定因素。
心肌病(CMs)是一种临床异质性的心血管疾病,其特征是在没有冠状动脉疾病、高血压、瓣膜疾病或先天性心脏病作为主要病因的情况下,心肌结构和功能异常。CMs的表型范围从无症状性心力衰竭到症状性心力衰竭和心源性猝死,CMs是全球心血管疾病的主要原因之一。CMs是高度可遗传的,尽管遗传形式和获得形式之间的明确区分仍然具有挑战性,特别是由于观察到的不完全外显性和遗传性CMs的可变表达性。根据其特定的形态表型和功能特征,CMs可分为至少5个不同的亚群:肥厚型心肌病(HCM)、扩张型心肌病(DCM)、致心律失常型心肌病(ACM)、限制性心肌病(RCM)和(左室)非压实型心肌病(LVNC),这些亚群既有临床表现,也有遗传重叠。自1990年鉴定出MYH7致病性变异是HCM的遗传原因以来,在了解导致心肌病的遗传因素方面取得了巨大进展。目前,超过100个基因已经与至少一种CM亚型相关,提供了对遗传性心力衰竭综合征的细胞基础的更深入了解,揭示了健康和疾病中心脏功能分子生物学的新见解,从而促进了新的治疗策略和个性化治疗方法的发展。
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来源期刊
Medizinische Genetik
Medizinische Genetik GENETICS & HEREDITY-
自引率
9.10%
发文量
48
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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