Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy.

Arrhythmias, Cardiac Arrhythmogenic Right Ventricular Dysplasia / diagnosis Cardiomyopathies / genetics Desmoplakins / genetics Female Follow-Up Studies Humans Male Mutation
Arrhythmogenic cardiomyopathy Desmoplakin Dilated cardiomyopathy Sudden cardiac death Ventricular arrhythmias

Journal

Heart rhythm
ISSN: 1556-3871
Titre abrégé: Heart Rhythm
Pays: United States
ID NLM: 101200317

Informations de publication

Date de publication:
08 2022
Historique:
received: 03 12 2021
revised: 14 04 2022
accepted: 16 04 2022
pubmed: 27 4 2022
medline: 27 7 2022
entrez: 26 4 2022
Statut: ppublish

Résumé

Desmoplakin (DSP) genetic variants have been reported in arrhythmogenic cardiomyopathy with particular regard to predominant left ventricular (LV) involvement. The purpose of this study was to improve our understanding of clinical phenotype and outcome of DSP variant carriers. The clinical picture and outcome of 73 patients (36% probands) harboring a pathogenic/likely pathogenic DSP variant were evaluated. The phenotype during follow-up (mean 11 years; range 1-39 years) changed in 25 patients (35%), arrhythmogenic LV cardiomyopathy (ALVC) forms being the most frequent (n = 26 [36%]), followed by biventricular (BIV; n = 20 [27%]) and arrhythmogenic right ventricular cardiomyopathy (ARVC; n = 16 [22%]) forms. Major ventricular arrhythmias were detected in 21 patients (29%), and they were more common in ARVC (n = 6, 56%) and BIV forms (n = 8, 40%) than in ALVC forms (n = 4, 15%). In patients with ALVC, major ventricular arrhythmias occurred in the setting of a normal/mildly reduced systolic function. Heart failure (HF) occurred in 6 patients (8%); none affected with ALVC. Females showed more commonly LV involvement, while ARVC forms were more frequently detected in males (21 [61%] vs 15 [38%]; P = .147). Males showed a higher incidence of major ventricular arrhythmias (18 [52%] vs 9 [24%]; P = .036), HF (11 [31%] vs 1 [3%]; P = .004), and cardiac death (11 [31%] vs 0 [0%]; P < .001). The clinical phenotype in pathogenic/likely pathogenic DSP variant carriers is wide. Although most patients show LV involvement, 16 (22%) has right ventricular abnormalities in keeping with a "classical" arrhythmogenic cardiomyopathy form. In ALVC, HF and major ventricular arrhythmias seem less common than in right ventricular and BIV variants. Females show more frequently LV involvement and a better outcome.

Sections du résumé

BACKGROUND
Desmoplakin (DSP) genetic variants have been reported in arrhythmogenic cardiomyopathy with particular regard to predominant left ventricular (LV) involvement.
OBJECTIVE
The purpose of this study was to improve our understanding of clinical phenotype and outcome of DSP variant carriers.
METHODS
The clinical picture and outcome of 73 patients (36% probands) harboring a pathogenic/likely pathogenic DSP variant were evaluated.
RESULTS
The phenotype during follow-up (mean 11 years; range 1-39 years) changed in 25 patients (35%), arrhythmogenic LV cardiomyopathy (ALVC) forms being the most frequent (n = 26 [36%]), followed by biventricular (BIV; n = 20 [27%]) and arrhythmogenic right ventricular cardiomyopathy (ARVC; n = 16 [22%]) forms. Major ventricular arrhythmias were detected in 21 patients (29%), and they were more common in ARVC (n = 6, 56%) and BIV forms (n = 8, 40%) than in ALVC forms (n = 4, 15%). In patients with ALVC, major ventricular arrhythmias occurred in the setting of a normal/mildly reduced systolic function. Heart failure (HF) occurred in 6 patients (8%); none affected with ALVC. Females showed more commonly LV involvement, while ARVC forms were more frequently detected in males (21 [61%] vs 15 [38%]; P = .147). Males showed a higher incidence of major ventricular arrhythmias (18 [52%] vs 9 [24%]; P = .036), HF (11 [31%] vs 1 [3%]; P = .004), and cardiac death (11 [31%] vs 0 [0%]; P < .001).
CONCLUSION
The clinical phenotype in pathogenic/likely pathogenic DSP variant carriers is wide. Although most patients show LV involvement, 16 (22%) has right ventricular abnormalities in keeping with a "classical" arrhythmogenic cardiomyopathy form. In ALVC, HF and major ventricular arrhythmias seem less common than in right ventricular and BIV variants. Females show more frequently LV involvement and a better outcome.

Identifiants

DOI: 10.1016/j.hrthm.2022.04.015 PMID: 35470109
pubmed: 35470109
pii: S1547-5271(22)01939-7
doi: 10.1016/j.hrthm.2022.04.015
pii:
doi:

Substances chimiques

DSP protein, human 0
Desmoplakins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1315-1324

Informations de copyright

Copyright © 2022 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

Auteurs

Riccardo Bariani (R)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Marco Cason (M)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Ilaria Rigato (I)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Alberto Cipriani (A)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Rudy Celeghin (R)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Monica De Gaspari (M)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Maria Bueno Marinas (M)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Giulia Mattesi (G)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Valeria Pergola (V)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Stefania Rizzo (S)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Alessandro Zorzi (A)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Benedetta Giorgi (B)

Radiology Division, Department of Medicine, University of Padua, Padua, Italy.

Alessandra Rampazzo (A)

Department of Biology, University of Padua, Padua, Italy.

Gaetano Thiene (G)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Sabino Iliceto (S)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Martina Perazzolo Marra (M)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Domenico Corrado (D)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Cristina Basso (C)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Kalliopi Pilichou (K)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Barbara Bauce (B)

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy. Electronic address: barbara.bauce@unipd.it.

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Clinical profile and long-term follow-up of a...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › Dysplasie ventriculaire droite arythmogène › Clinical profile and long-term follow-up of a...
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Cardiomyopathies › Clinical profile and long-term follow-up of a...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Plakines › Desmoplakines › Clinical profile and long-term follow-up of a...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études de suivi › Clinical profile and long-term follow-up of a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical profile and long-term follow-up of a...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Clinical profile and long-term follow-up of a...