Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology

被引:7
作者
Fan, Xuehui [1 ,2 ,3 ,4 ,5 ]
Yang, Guoqiang [3 ,6 ,7 ]
Duru, Firat [8 ]
Grilli, Maurizio [9 ]
Akin, Ibrahim [3 ,4 ,5 ]
Zhou, Xiaobo [1 ,2 ,3 ,4 ,5 ,10 ]
Saguner, Ardan Muammer [8 ]
EI-Battrawy, Ibrahim [4 ,5 ,11 ,12 ,13 ]
机构
[1] Southwest Med Univ, Inst Cardiovasc Res, Collaborat Innovat Ctr Prevent Cardiovasc Dis, Key Lab Med Electrophysiol,Minist Educ, Luzhou, Sichuan, Peoples R China
[2] Southwest Med Univ, Inst Cardiovasc Res, Collaborat Innovat Ctr Prevent Cardiovasc Dis, Med Electrophysiol Key Lab Sichuan Prov, Luzhou, Sichuan, Peoples R China
[3] Heidelberg Univ, Med Fac Mannheim, Med Ctr Mannheim, Cardiol Angiol Haemostaseol & Med Intens Care, Heidelberg, Germany
[4] Heidelberg Univ, European Ctr AngioScience ECAS, German Ctr Cardiovasc Res DZHK, Partner Site Heidelberg Mannheim, Heidelberg, Germany
[5] Heidelberg Univ, Ctr Cardiovasc Acute Med Mannheim ZKAM, Med Ctr Mannheim, Partner Site, Heidelberg, Germany
[6] Southwest Med Univ, Affiliated Tradit Chinese Med Hosp, Dept Acupuncture & Rehabil, Luzhou, Peoples R China
[7] Chiang Mai Univ, Fac Associated Med Sci, Dept Radiol Technol, Res Unit Mol Imaging Probes, Chiang Mai, Thailand
[8] Univ Hosp Zurich, Univ Heart Ctr, Dept Cardiol, Zurich, Switzerland
[9] Heidelberg Univ, Univ Med Ctr Mannheim UMM, Fac Med, Mannheim, Germany
[10] Univ Med Ctr Mannheim, Dept Med 1, Theodor Kutzer Ufer 1-3, D-68167 Mannheim, Germany
[11] Ruhr Univ, Dept Cardiol & Angiol, Bochum, Germany
[12] Ruhr Univ Bochum, Inst Physiol, Dept Cellular & Translat Physiol, Bochum, Germany
[13] Ruhr Univ Bochum, Inst Forsch & Lehre IFL, Mol & Expt Cardiol, Bochum, Germany
关键词
Arrhythmogenic cardiomyopathy; Desmosomes; Animal models; Human-induced pluripotent stem cell-derived cardiomyocytes; Pathophysiology; RIGHT-VENTRICULAR CARDIOMYOPATHY; SUDDEN CARDIAC DEATH; CELL-DERIVED CARDIOMYOCYTES; PLURIPOTENT STEM-CELLS; SODIUM CURRENT DEFICIT; LONG QT SYNDROME; DILATED CARDIOMYOPATHY; PHOSPHOLAMBAN GENE; DISEASE MECHANISMS; MISSENSE MUTATIONS;
D O I
10.1007/s12015-023-10615-0
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Arrhythmogenic cardiomyopathy (ACM) is a hereditary myocardial disease characterized by the replacement of the ventricular myocardium with fibrous fatty deposits. ACM is usually inherited in an autosomal dominant pattern with variable penetrance and expressivity, which is mainly related to ventricular tachyarrhythmia and sudden cardiac death (SCD). Importantly, significant progress has been made in determining the genetic background of ACM due to the development of new techniques for genetic analysis. The exact molecular pathomechanism of ACM, however, is not completely clear and the genotype-phenotype correlations have not been fully elucidated, which are useful to predict the prognosis and treatment of ACM patients. Different gene-targeted and transgenic animal models, human-induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) models, and heterologous expression systems have been developed. Here, this review aims to summarize preclinical ACM models and platforms promoting our understanding of the pathogenesis of ACM and assess their value in elucidating the ACM genotype-phenotype relationship.
引用
收藏
页码:2683 / 2708
页数:26
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