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; 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.

中文翻译：

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遗传性心房心肌病：共同特征、具体差异以及与了解心房心肌病的更广泛相关性。

心房心肌病是一种导致心房电和收缩功能障碍的疾病，通常伴有结构和功能变化。心房性心肌病最常与心室功能障碍同时发生，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 [ASCM]，心室功能障碍很少或无）相对罕见，最常报道与有害的罕见遗传变异有关。所涉及的基因可以影响负责各种生物功能的蛋白质，不仅限于心脏，还涉及心外组织。心房扩大和心房颤动是 ASCM 的常见并发症，并且通常是主要的临床特征。尽管在识别致病罕见变异方面取得了进展，但仍然缺乏对遗传性 ASCM 的分子发病机制、表型谱和治疗的总体理解和方法。在这篇综述中，我们的目的是分析与遗传性 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。我们概述了使用体外和体内遗传 ASCM 基础研究模型获得的见解，并将其与患者结果相关联。最后，我们为遗传性 ASCM 患者的未来研究以及基础科学模型和系统的改进提供建议。总体而言，更好地了解 ASCM 的遗传基础不仅可以更好地理解这种疾病，而且有望澄清我们对与心室功能障碍相关的更常见的房性心肌病形式的认识。