Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Arrhythmogenic right ventricular cardiomyopathy (ARVC), a predominantly familial and autosomal dominant inherited heart muscle disorder, is pathologically characterized by progressive right ventricular myocardial atrophy and fibrofatty replacement and clinically by ventricular arrhythmias with left bundle branch block morphology. Symptoms poorly reflect disease severity, with disease commonly first manifesting as sudden death among the young. The inflammatory and apoptotic theories first put forth to explain ARVC pathogenesis do not explain all cases, and advances in genetic technology have allowed to elucidate genetic mechanisms, with desmosomal mutations attracting much attention. As reviewed here, various non-mutually exclusive pathogenetic mechanisms therefore appear to underlie ARVC.
Department of Cardiology, Zhujiang Hospital, Southern Medical University, Gong Ye Road No. 253, Guangzhou, Guangdong, China.
Dongdong
D
Que
Department of Cardiology, Zhujiang Hospital, Southern Medical University, Gong Ye Road No. 253, Guangzhou, Guangdong, China y.pingzhen@yahoo.com.
Pingzhen
P
Yang
Department of Cardiology, Zhujiang Hospital, Southern Medical University, Gong Ye Road No. 253, Guangzhou, Guangdong, China.
Xudong
X
Song
Department of Cardiology, Zhujiang Hospital, Southern Medical University, Gong Ye Road No. 253, Guangzhou, Guangdong, China.
Lei
L
Liu
D000818:Animals; D017209:Apoptosis / Q000235:genetics; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009205:Myocarditis / Q000150:complications* / Q000175:diagnosis; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors
D005819:Genetic Markers
Apoptosis; Arrhythmogenic right ventricular cardiomyopathy; Desmosome; Gene; Inflammation; Pathogenesis