High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia

European Journal of Heart Failure
Alexis HermidaEstelle Gandjbakhch

Abstract

Previous studies suggested that genetic status affects the clinical course of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients. The aim of this study was to compare the outcome of desmoglein-2 (DSG2) mutation carriers to those who carry the plakophilin-2 (PKP2) mutation, the most common ARVC/D-associated gene. Consecutive ARVC/D patients carrying a pathogenic mutation in PKP2 or DSG2 were selected from a national ARVC/D registry. The cumulative freedom from sustained ventricular arrhythmia and cardiac transplantation/death from heart failure (HF) during follow-up was assessed, compared between PKP2 and DSG2, and predictors for ventricular arrhythmia and HF events determined. Overall, 118 patients from 78 families were included: 27 (23%) carried a DSG2 mutation and 91 (77%) a PKP2 mutation. There were no significant differences between DSG2 and PKP2 mutation carriers concerning gender, proband status, age at diagnosis, T-wave inversion, or right ventricular dysfunction at baseline. DSG2 patients displayed more frequent epsilon wave (37% vs. 17%, P = 0.048) and left ventricular dysfunction at diagnosis (54% vs. 10%, P < 0.001). During a median follow-up of 5.6 years (2.5-16), DSG2 and PKP2 mutation carr...Continue Reading

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Citations

Dec 18, 2019·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Alexia ViteEric Villard
Jun 13, 2020·Basic Research in Cardiology·Nadine LubosClaudia A Krusche
Apr 2, 2019·European Journal of Heart Failure·Kalliopi Pilichou, Cristina Basso
May 30, 2020·Journal of Cardiovascular Development and Disease·Tyler L StevensPeter J Mohler
Jun 10, 2020·Cancer Cell International·Shuhang QinShuzhong Yao
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Aug 18, 2021·Journal of Medical Genetics·Alex Hørby ChristensenHenning Bundgaard
Dec 18, 2021·ESC Heart Failure·Lorenzo StrettiDaniela Tomasoni
Jan 22, 2022·The Egyptian Heart Journal : (EHJ) : Official Bulletin of the Egyptian Society of Cardiology·Vaishak KaviarasanRamakrishnan Veerabathiran

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