Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator
Protonotarios, Alexandros (St Bartholomew's Hospital)
Bariani, Ricardo (University of Padua)
Cappelletto, Chiara (Karolinska Institutet (Estocolm, Suècia))
Pavlou, Menelaos (University College London)
García-García, Alba (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Cipriani, Alberto (University of Padua)
Protonotarios, Ioannis (Nikos Protonotarios Medical Centre)
Rivas Pérez, Adrián (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
Wittenberg, Regitze (Odense University Hospital (Dinamarca))
Graziosi, Maddalena (IRCCS Azienda Ospedaliero-Universitaria di Bologna)
Xylouri, Zafeirenia (Nikos Protonotarios Medical Centre)
Larrañaga-Moreira, José M. (Complejo Hospitalario Universitario de A Coruña)
De Luca, Antonio (University of Trieste)
Celeghin, Rudy (University of Padua)
Pilichou, Kalliopi (University of Padua)
Bakalakos, Athanasios (St Bartholomew's Hospital)
Lopes, Luis Rocha (University College London)
Savvatis, Konstantinos (University College London)
Stolfo, Davide (Karolinska Institutet (Estocolm, Suècia))
Dal Ferro, Matteo (University of Trieste)
Merlo, Marco (University of Trieste)
Basso, Cristina (University of Padua)
Limeres Freire, Javier (Vall d'Hebron Institut de Recerca (VHIR))
Rodríguez Palomares, José F. (Vall d'Hebron Institut de Recerca (VHIR))
Kubo, Toru (Kochi University)
Ripoll-Vera, Tomás (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears))
Barriales-Villa, Roberto (Complejo Hospitalario Universitario de A Coruña)
Antoniades, Loizos (Cyprus Institute of Cardiomyopathies and Inherited Cardiovascular Diseases)
Mogensen, Jens (Aarhus University Hospital (Aarhus, Dinamarca))
García-Pavía, Pablo (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares)
Wahbi, Karim (Sorbonne Paris Cite University)
Biagini, Elena (IRCCS Azienda Ospedaliero-Universitaria di Bologna)
Anastasakis, Aris (Onassis Cardiac Surgery Centre)
Tsatsopoulou, Adalena (Onassis Cardiac Surgery Centre)
Zorio, Esther (Hospital Universitari i Politècnic La Fe (València))
Gimeno-Blanes, Juan R. (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares)
García-Pinilla, José Manuel (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Syrris, Petros (University College London)
Sinagra, Gianfranco (University of Trieste)
Bauce, Barbara (University of Padua)
Elliott, Perry M. (University College London)
Universitat Autònoma de Barcelona

Data:	2022
Resum:	Aims: To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results: The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6. 0 (3. 1,12. 5) years, 100 patients (18%) experienced the primary VA outcome (sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or sudden cardiac death) corresponding to an annual event rate of 2. 6% [95% confidence interval (CI) 1. 9-3. 3]. Risk estimates for VA using the 2019 ARVC risk model showed reasonable discriminative ability but with overestimation of risk. The ARVC risk model was compared in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) (n = 79, 14%); other desmosomal (n = 59, 11%); and gene elusive (n = 160, 29%). Discrimination and calibration were highest for PKP2 and lowest for the gene-elusive group. Univariable analyses revealed the variable performance of individual clinical risk markers in the different gene groups, e. g. right ventricular dimensions and systolic function are significant risk markers in PKP2 but not in DSP patients and the opposite is true for left ventricular systolic function. Conclusion: The 2019 ARVC risk model performs reasonably well in gene-positive ARVC (particularly for PKP2) but is more limited in gene-elusive patients. Genotype should be included in future risk models for ARVC.
Ajuts:	Instituto de Salud Carlos III PI18/01582 Instituto de Salud Carlos III PI21/01282 Instituto de Salud Carlos III PI18/01231
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Arrhythmogenic right ventricular cardiomyopathy ; Genotype ; Risk stratification ; Sudden cardiac death ; Ventricular arrhythmia
Publicat a:	European heart journal, Vol. 43 Núm. 32 (21 2022) , p. 3053-3067, ISSN 1522-9645

DOI: 10.1093/eurheartj/ehac235
PMID: 35766183

15 p, 2.7 MB

El registre apareix a les col·leccions:
Articles > Articles de recerca
Articles > Articles publicats