Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

International Journal of Cardiology
Silvia CastellettiAntonis Pantazis

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment. The two groups were compared for clinical parameters, basic demographics such as sex, age at diagnosis, age at disease onset, as well as prevalence of symptoms and arrhythmic events. Missense DSP variants were present in 10 patients and non-missense in 17. Mean age at diagnosis and at first arrhythmic event did not differ between the two groups. Also the prevalence of symptoms, either major (60% vs 59%, p=1) or all (80% vs 88%, p=0.61), did not differ. By contrast, left ventricular (LV) dysfunction was significantly more prevalent among patients with non-missense mutations (76.5% vs 10%, p=0.001), who were also much more likely to have a structural LV involvement by Cardiac Magnetic Resonance (CMR) (92% vs 22%, p=...Continue Reading

Citations

Mar 16, 2018·Current Opinion in Cardiology·Jennifer KarmouchPetros Syrris
Jul 12, 2018·Biophysics Reviews·Anita Kiran VimalanathanKatja Gehmlich
Feb 1, 2019·Circulation·Chris MilesMary N Sheppard
Apr 18, 2020·ESC Heart Failure·Antheia KissopoulouCecilia Gunnarsson
Sep 25, 2020·Molecular Genetics & Genomic Medicine·Alessandra CarnevaleMaría Teresa Villarreal-Molina
Jul 1, 2018·The Journal of Cell Biology·Chen Yuan KamKathleen J Green
Sep 1, 2018·Journal of Arrhythmia·Yongkeun Cho
Apr 28, 2019·Nature Reviews. Cardiology·Karyn M AustinWilliam T Pu
Feb 15, 2020·Heart Failure Reviews·Thomas ZegkosGeorgios Efthimiadis
Nov 17, 2020·Circulation. Arrhythmia and Electrophysiology·Michela CasellaClaudio Tondo
Jan 19, 2021·The American Journal of Cardiology·Paul J ScheelNisha A Gilotra
Feb 11, 2021·Circulation. Genomic and Precision Medicine·Alice GhidoniLia Crotti
Aug 18, 2021·Journal of Medical Genetics·Alex Hørby ChristensenHenning Bundgaard
Aug 4, 2021·Chinese Medical Journal·Zhong-Yu YuanYong-Quan Wu

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