NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes

Adalena Tsatsopoulou¹, Dominic Jr Abrams², Aris Anastasakis³, Loizos Antoniades⁴, Elena Arbelo⁵, Eloisa Arbustini⁶, Euan A Ashley⁷, Angeliki Asimaki⁸, Cristina Basso⁹, Eduardo Bossone¹⁰, Julia Cadrin-Turigny¹¹, Hugh Calkins¹², Andreina Carbone¹⁰, Perry M Elliott¹³, Georgios Efthimiadis¹⁴, Monica Franzese¹⁰, Alexandra Frogoudaki¹⁵, Juan Ramon Gimeno¹⁶, John McGrath¹⁷, Jodie Ingles¹⁸, Juan Pablo Kaski¹³, Andre Keren¹⁹, George Kohiadakis²⁰, Emilia Lazarou²¹, George Lazaros²¹, Stamatios Lerakis²², Giuseppe Limongelli²³, Soultana Meditskou²⁴, Luisa Mestroni²⁵, Ioanna Metaxa²⁶, Emanuele Monda²³, Eustathios Papatheodorou³, Despoina Parharidou¹⁴, Alexandros Patrianakos²⁰, Kalliopi Pilichou⁹, Alexandros Protonotarios¹³, Ioannis Protonotarios²⁷, Salvatore Rega¹⁰, Angelos Rigopoulos²⁸, Jeffrey Saffitz²⁹, Petros Syrris¹³, Matt Taylor³⁰, Johannes Peter van Tintelen³¹, Charalambos Vlachopoulos²¹, Zafeirenia Xylouri²⁷, William J McKenna¹³

Affiliations

¹ Precision Medicine Network in Cardiology Onassis Cardiac Surgery Centre, Athens, Greece; Paediatric Clinic, Hora Naxos, Greece. Electronic address: adalenatsatsop@gmail.com.
² Boston Children's Hospital, Boston, USA.
³ Onassis Cardiac Surgery Centre, Athens, Greece.
⁴ University of Cyprus Medical School, Nicosia, Cyprus.
⁵ Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart, Amsterdam, The Netherlands.
⁶ Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
⁷ Stanford University, Stanford, CA, USA.
⁸ Cardiovascular and Genomics Research Institute, St George's University of London, UK.
⁹ University of Padua, Medical School, Padua, Italy.
¹⁰ IRCCS SYNLAB SDN, Naples, Italy.
¹¹ Cardiovascular Genetics Center, Montréal Heart Institute, Faculty of Medicine, University of Montréal, Montréal, Québec, Canada.
¹² Johns Hopkins Medical Institution, Baltimore, USA.
¹³ Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK.
¹⁴ Department of Cardiology, AHEPA University Hospital, Thessaloniki, Greece.
¹⁵ Cardiology, Attikon University Hospital, Athens University, Athens, Greece.
¹⁶ Inherited Cardiac Disease Department (CSUR/ ERN Guard Heart), Virgen de la Arrixaca University Hospital, Murcia, Spain.
¹⁷ Dermatology, King's College London, UK.
¹⁸ Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
¹⁹ Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
²⁰ Cardiology Department, University Hospital of Heraklion, Heraklion, Greece.
²¹ First Cardiology Department, School of Medicine, Hippokration General Hospital, National and Kapodistrian University of Athens, Athens, Greece.
²² Department of Cardiology, Mount Sinai Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
²³ Department of Translational Sciences, University of Campania'Luigi Vanvitelli', Naples, Italy.
²⁴ AHEPA University Hospital, Thessaloniki, Greece.
²⁵ University of Colorado Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
²⁶ Hellenic Society of Cardiology, Athens, Greece.
²⁷ Acute Medicine, Southampton General Hospital, Southampton, UK.
²⁸ Mitera Hospital, Marousi, Athens, Greece.
²⁹ Harvard Medical School, Department of Pathology, Beth Israel Deaconess Medical Center, Boston, USA.
³⁰ Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
³¹ Universitair Medisch Centrum Utrecht, Utrecht, Netherlands.

PMID: 40316016
DOI: 10.1016/j.hjc.2025.04.004

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NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes

Adalena Tsatsopoulou et al. Hellenic J Cardiol. 2025.

Free article

. 2025 Apr 30:S1109-9666(25)00102-2.

doi: 10.1016/j.hjc.2025.04.004. Online ahead of print.

Authors

Affiliations

¹ Precision Medicine Network in Cardiology Onassis Cardiac Surgery Centre, Athens, Greece; Paediatric Clinic, Hora Naxos, Greece. Electronic address: adalenatsatsop@gmail.com.
² Boston Children's Hospital, Boston, USA.
³ Onassis Cardiac Surgery Centre, Athens, Greece.
⁴ University of Cyprus Medical School, Nicosia, Cyprus.
⁵ Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart, Amsterdam, The Netherlands.
⁶ Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
⁷ Stanford University, Stanford, CA, USA.
⁸ Cardiovascular and Genomics Research Institute, St George's University of London, UK.
⁹ University of Padua, Medical School, Padua, Italy.
¹⁰ IRCCS SYNLAB SDN, Naples, Italy.
¹¹ Cardiovascular Genetics Center, Montréal Heart Institute, Faculty of Medicine, University of Montréal, Montréal, Québec, Canada.
¹² Johns Hopkins Medical Institution, Baltimore, USA.
¹³ Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK.
¹⁴ Department of Cardiology, AHEPA University Hospital, Thessaloniki, Greece.
¹⁵ Cardiology, Attikon University Hospital, Athens University, Athens, Greece.
¹⁶ Inherited Cardiac Disease Department (CSUR/ ERN Guard Heart), Virgen de la Arrixaca University Hospital, Murcia, Spain.
¹⁷ Dermatology, King's College London, UK.
¹⁸ Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
¹⁹ Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
²⁰ Cardiology Department, University Hospital of Heraklion, Heraklion, Greece.
²¹ First Cardiology Department, School of Medicine, Hippokration General Hospital, National and Kapodistrian University of Athens, Athens, Greece.
²² Department of Cardiology, Mount Sinai Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
²³ Department of Translational Sciences, University of Campania'Luigi Vanvitelli', Naples, Italy.
²⁴ AHEPA University Hospital, Thessaloniki, Greece.
²⁵ University of Colorado Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
²⁶ Hellenic Society of Cardiology, Athens, Greece.
²⁷ Acute Medicine, Southampton General Hospital, Southampton, UK.
²⁸ Mitera Hospital, Marousi, Athens, Greece.
²⁹ Harvard Medical School, Department of Pathology, Beth Israel Deaconess Medical Center, Boston, USA.
³⁰ Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
³¹ Universitair Medisch Centrum Utrecht, Utrecht, Netherlands.

PMID: 40316016
DOI: 10.1016/j.hjc.2025.04.004

Abstract

The NAXCARE (NAXos disease and Cardiocutaneous Assessment and Registry for Evaluation) is a global initiative designed to collect, store, and analyze clinical outcomes data on patients with Naxos disease and related cardiocutaneous syndromes (CCS). This registry aims to fill the gaps in clinical knowledge, enhance treatment approaches, and improve patient outcomes by systematically documenting disease progression, genetic profiles, and patient care pathways. The following methodology outlines the registry's design, data collection protocols, management, security measures, and anticipated contributions to research and clinical practice.

Keywords: Arrhythmogenic right ventricular cardiomyopathy; Carvajal syndrome; Desmoplakin; Naxos disease; Palmoplantar keratoderma; Plakoglobin.

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NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes

Affiliations

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes

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Affiliations

Abstract

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