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Publications

Journal Article Review Ahead of print

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

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

Hellenic J Cardiol

Authors: Adalena Tsatsopoulou, Dominic Jr Abrams, Aris Anastasakis, Loizos Antoniades, Elena Arbelo, Eloisa Arbustini, Euan A Ashley, Angeliki Asimaki, Cristina Basso, Eduardo Bossone, Julia Cadrin-Turigny, Hugh Calkins, Andreina Carbone, Perry M Elliott, Georgios Efthimiadis, Monica Franzese, Alexandra Frogoudaki, Juan Ramon Gimeno, John McGrath, Jodie Ingles, Juan Pablo Kaski, Andre Keren, George Kohiadakis, Emilia Lazarou, George Lazaros, Stamatios Lerakis, Giuseppe Limongelli, Soultana Meditskou, Luisa Mestroni, Ioanna Metaxa, Emanuele Monda, Eustathios Papatheodorou, Despoina Parharidou, Alexandros Patrianakos, Kalliopi Pilichou, Alexandros Protonotarios, Ioannis Protonotarios, Salvatore Rega, Angelos Rigopoulos, Jeffrey Saffitz, Petros Syrris, Matt Taylor, Johannes Peter van Tintelen, Charalambos Vlachopoulos, Zafeirenia Xylouri, William J McKenna

Affiliations

  • Precision Medicine Network in Cardiology Onassis Cardiac Surgery Centre, Athens, Greece; Paediatric Clinic, Hora Naxos, Greece.
  • Boston Children's Hospital, Boston, USA.
  • Onassis Cardiac Surgery Centre, Athens, Greece.
  • University of Cyprus Medical School, Nicosia, Cyprus.
  • 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.
  • Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Stanford University, Stanford, CA, USA.
  • Cardiovascular and Genomics Research Institute, St George's University of London, UK.
  • University of Padua, Medical School, Padua, Italy.
  • IRCCS SYNLAB SDN, Naples, Italy.
  • Cardiovascular Genetics Center, Montréal Heart Institute, Faculty of Medicine, University of Montréal, Montréal, Québec, Canada.
  • Johns Hopkins Medical Institution, Baltimore, USA.
  • Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK.
  • Department of Cardiology, AHEPA University Hospital, Thessaloniki, Greece.
  • Cardiology, Attikon University Hospital, Athens University, Athens, Greece.
  • Inherited Cardiac Disease Department (CSUR/ ERN Guard Heart), Virgen de la Arrixaca University Hospital, Murcia, Spain.
  • Dermatology, King's College London, UK.
  • Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Cardiology Department, University Hospital of Heraklion, Heraklion, Greece.
  • First Cardiology Department, School of Medicine, Hippokration General Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Department of Cardiology, Mount Sinai Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Department of Translational Sciences, University of Campania'Luigi Vanvitelli', Naples, Italy.
  • AHEPA University Hospital, Thessaloniki, Greece.
  • University of Colorado Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Hellenic Society of Cardiology, Athens, Greece.
  • Acute Medicine, Southampton General Hospital, Southampton, UK.
  • Mitera Hospital, Marousi, Athens, Greece.
  • Harvard Medical School, Department of Pathology, Beth Israel Deaconess Medical Center, Boston, USA.
  • Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Universitair Medisch Centrum Utrecht, Utrecht, Netherlands.

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.

MeSH

Registries, Keratoderma, Palmoplantar, Desmoplakins, Cardiovascular Diseases, Leopard Syndrome, Gamma Catenin