Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.

IF 9.1 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Circulation. Arrhythmia and electrophysiology Pub Date : 2023-12-01 Epub Date: 2023-11-29 DOI:10.1161/CIRCEP.123.003750
Edouard Marcoux, Deanna Sosnowski, Sandro Ninni, Martin Mackasey, Julia Cadrin-Tourigny, Jason D Roberts, Morten Salling Olesen, Diane Fatkin, Stanley Nattel
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Abstract

Atrial cardiomyopathy is a condition that causes electrical and contractile dysfunction of the atria, often along with structural and functional changes. Atrial cardiomyopathy most commonly occurs in conjunction with ventricular dysfunction, in which case it is difficult to discern the atrial features that are secondary to ventricular dysfunction from those that arise as a result of primary atrial abnormalities. Isolated atrial cardiomyopathy (atrial-selective cardiomyopathy [ASCM], with minimal or no ventricular function disturbance) is relatively uncommon and has most frequently been reported in association with deleterious rare genetic variants. The genes involved can affect proteins responsible for various biological functions, not necessarily limited to the heart but also involving extracardiac tissues. Atrial enlargement and atrial fibrillation are common complications of ASCM and are often the predominant clinical features. Despite progress in identifying disease-causing rare variants, an overarching understanding and approach to the molecular pathogenesis, phenotypic spectrum, and treatment of genetic ASCM is still lacking. In this review, we aim to analyze the literature relevant to genetic ASCM to understand the key features of this rather rare condition, as well as to identify distinct characteristics of ASCM and its arrhythmic complications that are related to specific genotypes. We outline the insights that have been gained using basic research models of genetic ASCM in vitro and in vivo and correlate these with patient outcomes. Finally, we provide suggestions for the future investigation of patients with genetic ASCM and improvements to basic scientific models and systems. Overall, a better understanding of the genetic underpinnings of ASCM will not only provide a better understanding of this condition but also promises to clarify our appreciation of the more commonly occurring forms of atrial cardiomyopathy associated with ventricular dysfunction.

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遗传性心房心肌病:共同特征,特定差异,以及与理解心房心肌病更广泛的相关性。
心房心肌病是一种引起心房电和收缩功能障碍的疾病,通常伴有结构和功能改变。房性心肌病最常与心室功能障碍合并发生,在这种情况下,很难区分继发于心室功能障碍的心房特征和由原发性心房异常引起的心房特征。孤立性心房心肌病(心房选择性心肌病;心房选择性心肌病(心房选择性心肌病,伴有轻微或无心室功能障碍)相对罕见,且常与有害的罕见遗传变异相关。所涉及的基因可以影响负责各种生物功能的蛋白质,不一定局限于心脏,也涉及心外组织。心房扩大和心房颤动是ASCM的常见并发症,往往是主要的临床特征。尽管在识别致病的罕见变异方面取得了进展,但对遗传性ASCM的分子发病机制、表型谱和治疗仍缺乏全面的理解和方法。在这篇综述中,我们旨在分析与遗传性ASCM相关的文献,以了解这种相当罕见的疾病的关键特征,并确定ASCM的独特特征及其与特定基因型相关的心律失常并发症。我们概述了在体外和体内使用遗传ASCM的基础研究模型所获得的见解,并将这些与患者预后相关联。最后,我们对今后遗传性ASCM患者的调查和基础科学模型和系统的完善提出了建议。总的来说,更好地了解ASCM的遗传基础不仅可以更好地了解这种疾病,而且还有望澄清我们对与心室功能障碍相关的更常见的心房心肌病形式的认识。
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来源期刊
CiteScore
13.70
自引率
4.80%
发文量
187
审稿时长
4-8 weeks
期刊介绍: Circulation: Arrhythmia and Electrophysiology is a journal dedicated to the study and application of clinical cardiac electrophysiology. It covers a wide range of topics including the diagnosis and treatment of cardiac arrhythmias, as well as research in this field. The journal accepts various types of studies, including observational research, clinical trials, epidemiological studies, and advancements in translational research.
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