title: Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis.
abstract: The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is poorly characterized. Therefore, we performed a meta-analysis to explore the genotype-phenotype relationship in patients with ARVC. Any studies reporting this genotype-phenotype relationship were included. In total, 11 studies involving 1,113 patients were included. The presence of desmosomal gene mutations was associated with a younger onset age of ARVC (32.7 ± 15.2 versus 43.2 ± 13.3 years; P = 0.001), a higher incidence of T wave inversion in V1-3leads (78.5% versus 51.6%; P = 0.0002) or a family history of ARVC (39.5% versus 27.1%; P = 0.03). There was no difference in the proportion of males between desmosomal-positive and desmosomal-negative patients (68.3% versus 68.9%; P = 0.60). The presence of desmosomal gene mutations was not associated with global or regional structural and functional alterations (63.5% versus 60.5%; P = 0.37), epsilon wave (29.4% versus 26.2%; P = 0.51) or ventricular tachycardia of left bundle-branch morphology (62.6% versus 57.2%; P = 0.30). Overall, patients with desmosomal gene mutations are characterized by an earlier onset age, a higher incidence of T wave inversion in V1-3leads and a strong family history of ARVC.
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Zhenyan
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Wengen
authors.initials: W
authors.lastname: Zhu
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Cen
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Qiongqiong
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Jinzhu
authors.initials: J
authors.lastname: Hu
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Xiaoshu
authors.initials: X
authors.lastname: Cheng
authors.affiliation: Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang of Jiangxi, 330006, China.|Jiangxi Key Laboratory of Molecular Medicine, Nanchang of Jiangxi, 330006, China.
authors.forename: Kui
authors.initials: K
authors.lastname: Hong
mesh_terms: D026683:Advisory Committees; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D003710:Demography; D003896:Desmosomes / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis