Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Fecha de publicación: 21/08/2022 Fecha Ahead of Print: 01/06/2022

Autores de IIS La Fe

Esther Zorio Grima

Autor

Participantes ajenos a IIS La Fe

Protonotarios, Alexandros
Bariani, Riccardo
Cappelletto, Chiara
Pavlou, Menelaos
Garcia-Garcia, Alba
Cipriani, Alberto
Protonotarios, Ioannis
Rivas, Adrian
Wittenberg, Regitze
Graziosi, Maddalena
Xylouri, Zafeirenia
Larranaga-Moreira, Jose M.
de Luca, Antonio
Celeghin, Rudy
Pilichou, Kalliopi
Bakalakos, Athanasios
Lopes, Luis Rocha
Savvatis, Konstantinos
Stolfo, Davide
Dal Ferro, Matteo
Merlo, Marco
Basso, Cristina
Limeres Freire, Javier
Rodriguez-Palomares, Jose F.
Kubo, Toru
Ripoll-Vera, Tomas
Barriales-Villa, Roberto
Antoniades, Loizos
Mogensen, Jens
Garcia-Pavia, Pablo
Wahbi, Karim
Biagini, Elena
Anastasakis, Aris
Tsatsopoulou, Adalena
Gimeno, Juan R.
Manuel Garcia-Pinilla, Jose
Syrris, Petros
Sinagra, Gianfranco
Bauce, Barbara
Elliott, Perry M.

Grupos

Cardiopatías familiares, muerte súbita y mecanismos de enfermedad (CAFAMUSME)

Investigador Principal

Aitana Braza Boils

Abstract

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.

Datos de la publicación

ISSN/ISSNe:: 0195-668X, 1522-9645
Tipo:: Article
Páginas:: 3053-3067
DOI:: 10.1093/eurheartj/ehac235
Factor de Impacto:: 4,118 SCImago ℠
Cuartil:: Q1 SCImago ℠

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Métricas

Filiaciones

Protonotarios, Alexandros:: Institute of Cardiovascular Science, University College London, London, UK

Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, London, UK
Bariani, Riccardo:: Department of Cardiac Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy
Cappelletto, Chiara:: Cardio-Thoraco-Vascular Department, University of Trieste, Trieste, Italy

Department of Medicine, Karolinska Institutet, Stockholm, Sweden
Pavlou, Menelaos:: Department of Statistical Science, University College London, London, UK
Garcia-Garcia, Alba:: Inherited Cardiac Diseases Unit (CSUR-ERN), Department of Cardiology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
Cipriani, Alberto:: Department of Cardiac Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy
Protonotarios, Ioannis:: Nikos Protonotarios Medical Centre, Naxos, Greece
Rivas, Adrian:: Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain
Wittenberg, Regitze:: Department of Cardiology, Odense University Hospital, Odense, Denmark
Graziosi, Maddalena:: Cardiology Unit, St Orsola Hospital, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Xylouri, Zafeirenia:: Nikos Protonotarios Medical Centre, Naxos, Greece
Larranaga-Moreira, Jose M.:: Univ A Coruna, Complexo Hosp Univ A Coruna, Inst Invest Biomed A Coruna INIBIC,CIBERCV, Serv Galego Saude SERGAS,Unidad Cardiopatias Fami, La Coruna, Spain
de Luca, Antonio:: Cardio-Thoraco-Vascular Department, University of Trieste, Trieste, Italy
Celeghin, Rudy:: Department of Cardiac Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy
Pilichou, Kalliopi:: Department of Cardiac Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy
Bakalakos, Athanasios:: Institute of Cardiovascular Science, University College London, London, UK

Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, London, UK
Lopes, Luis Rocha:: Institute of Cardiovascular Science, University College London, London, UK

Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, London, UK
Savvatis, Konstantinos:: Institute of Cardiovascular Science, University College London, London, UK

Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, London, UK
Stolfo, Davide:: Cardio-Thoraco-Vascular Department, University of Trieste, Trieste, Italy

Department of Medicine, Karolinska Institutet, Stockholm, Sweden
Dal Ferro, Matteo:: Cardio-Thoraco-Vascular Department, University of Trieste, Trieste, Italy
Merlo, Marco:: Cardio-Thoraco-Vascular Department, University of Trieste, Trieste, Italy
Basso, Cristina:: Department of Cardiac Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy
Limeres Freire, Javier:: European Reference Networks Rare Low Prevalence &, London, England

Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Vall dHebron Inst Recerca VHIR, Unidad Cardiopatias Familiares,Serv Cardiol, Barcelona, Spain

Ctr Biomed Network Res Cardiovasc Dis CIBERCV, Madrid, Spain
Rodriguez-Palomares, Jose F.:: Unidad de Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain

Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain
Kubo, Toru:: Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Japan
Ripoll-Vera, Tomas:: Inherited Cardiovascular Diseases Unit, Son Llatzer University Hospital & IdISBa, Palma de Mallorca, Spain
Barriales-Villa, Roberto:: Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, CIBERCV, A Coruña, Spain
Antoniades, Loizos:: Cyprus Institute of Cardiomyopathies and Inherited Cardiovascular Diseases, Nicosia, Cyprus
Mogensen, Jens:: Aalborg University Hospital, Denmark
Garcia-Pavia, Pablo:: Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain

Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain
Wahbi, Karim:: Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Île-de-France, Paris-Descartes, Sorbonne Paris Cité University, Paris, France
Biagini, Elena:: Cardiology Unit, St Orsola Hospital, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Anastasakis, Aris:: Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Centre, Athens, Greece
Tsatsopoulou, Adalena:: Nikos Protonotarios Medical Centre, Naxos, Greece

Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Centre, Athens, Greece
Zorio, Esther:: Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain

Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Universitario y Politécnico La Fe, CaFaMuSMe Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain
Gimeno, Juan R.:: Inherited Cardiac Diseases Unit (CSUR-ERN), Department of Cardiology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain

Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain
Manuel Garcia-Pinilla, Jose:: Ctr Biomed Network Res Cardiovasc Dis CIBERCV, Madrid, Spain

Hosp Univ Virgen La Victoria, Cardiol Serv, Heart Failure & Familial Heart Dis Unit, IBIMA, Malaga, Spain
Syrris, Petros:: Institute of Cardiovascular Science, University College London, London, UK
Sinagra, Gianfranco:: Cardio-Thoraco-Vascular Department, University of Trieste, Trieste, Italy
Bauce, Barbara:: Department of Cardiac Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy
Elliott, Perry M.:: Institute of Cardiovascular Science, University College London, London, UK

Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, London, UK

Keywords

Arrhythmogenic right ventricular cardiomyopathy; Sudden cardiac death; Ventricular arrhythmia; Risk stratification; Genotype

Campos de estudio

Proyectos asociados

RED INVESTIGACION (RECAVA)

RD06/0014/0004 . INSTITUTO DE SALUD CARLOS III; FUNDACION PARA LA INV BIOMEDICA- HOSPITAL GREGORIO MARAÑON; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2006