Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
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DOI：
10.1007/s11897-021-00532-z
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发表时间：
2021-12
影响因子：
--
通讯作者：
Brodehl A
中科院分区：
文献类型：
--
作者：
Gerull B;Brodehl A
致心律失常性心肌病（ACM）是一种遗传性疾病，其特征是在表面健康的年轻人中发生危及生命的室性心律失常和心源性猝死（SCD）。在大约一半的患者中可以发现编码细胞连接的基因突变。然而，疾病的发作和严重程度、心律失常的风险和结局是高度可变的，并且目前无法获得药物靶向治疗。这篇综述着重于临床危险分层、遗传病因学和病理生理学概念的进展。桥粒是该疾病的核心部分，但其他闰盘和相关结构蛋白不仅拓宽了遗传谱，而且为ACM的发病机制提供了新的分子和细胞见解。信号通路和炎症的作用将被讨论和新的治疗方法概述的目标。遗传发现和实验驱动的临床前研究为ACM向突变和途径特异性个性化医学的理解做出了重大贡献。
Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by life-threatening ventricular arrhythmias and sudden cardiac death (SCD) in apparently healthy young adults. Mutations in genes encoding for cellular junctions can be found in about half of the patients. However, disease onset and severity, risk of arrhythmias, and outcome are highly variable and drug-targeted treatment is currently unavailable. This review focuses on advances in clinical risk stratification, genetic etiology, and pathophysiological concepts. The desmosome is the central part of the disease, but other intercalated disc and associated structural proteins not only broaden the genetic spectrum but also provide novel molecular and cellular insights into the pathogenesis of ACM. Signaling pathways and the role of inflammation will be discussed and targets for novel therapeutic approaches outlined. Genetic discoveries and experimental-driven preclinical research contributed significantly to the understanding of ACM towards mutation- and pathway-specific personalized medicine.
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影响因子：
39.3
作者：
Chatterjee, Diptendu;Fatah, Meena;Hamilton, Robert M.
通讯作者：
Hamilton, Robert M.
影响因子：
17.1
作者：
Asimaki A;Kapoor S;Plovie E;Karin Arndt A;Adams E;Liu Z;James CA;Judge DP;Calkins H;Churko J;Wu JC;MacRae CA;Kléber AG;Saffitz JE
通讯作者：
Saffitz JE
影响因子：
7.8
作者：
Brodehl, Andreas;Rezazadeh, Saman;Gerull, Brenda
通讯作者：
Gerull, Brenda
影响因子：
8
作者：
Chelko, Stephen P.;Asimaki, Angeliki;Judge, Daniel P.
通讯作者：
Judge, Daniel P.
影响因子：
4.8
作者：
Brodehl, Andreas;Hedde, Per Niklas;Milting, Hendrik
通讯作者：
Milting, Hendrik