JACC: Advances (Feb 2025)
Naxos Disease and Related Cardio-Cutaneous Syndromes
- Alexandros Protonotarios, MD,
- Angeliki Asimaki, Ph.D,
- Cristina Basso, MD,
- Zafeirenia Xylouri, MD,
- Emanuele Monda, MD,
- Ioannis Protonotarios, MD,
- Giulia Crisci, MD,
- Dominic JR. Abrahms, MMBS, MD, MBA,
- Aris Anastasakis, MD,
- Loizos Antoniades, MD,
- Athanasios Bakalakos, MD,
- Andreina Carbone, MD,
- Aman S. Coonar, MD,
- Juan Ramon Gimeno, MD,
- George Lazaros, MD,
- Stamatis Lerakis, MD,
- Luisa Mestroni, MD,
- George Papadopoulos, MD,
- Leandro Pecchia, MD,
- Francesca Romana Prandi, MD,
- Petros Syrris, MD,
- Julia Cadrin-Turigny, MD,
- Anargyros Vasilakis, MSc,
- Jeffrey E. Saffitz, MD, PhD,
- Stamatios Gaetano Thiene, MD,
- Perry M. Elliott, MD,
- Juan Pablo Kaski, MD,
- William J. McKenna, MD,
- Eduardo Bossone, MD,
- Giuseppe Limongelli, MD,
- Adalena Tsatsopoulou, MD
Affiliations
- Alexandros Protonotarios, MD
- Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK
- Angeliki Asimaki, Ph.D
- Cardiovascular and Genomics Research Institute of City, St George’s University of London, London, UK
- Cristina Basso, MD
- University of Padua, Medical School, Padua, Italy
- Zafeirenia Xylouri, MD
- Acute Medicine, Southampton General Hospital, Southampton, UK
- Emanuele Monda, MD
- Department of Traslational Sciences, University of Campania ‘Luigi Vanvitelli’, Naples, Italy
- Ioannis Protonotarios, MD
- Cardiovascular and Genomics Research Institute of City, St George’s University of London, London, UK
- Giulia Crisci, MD
- University of Naples Federico II, Naples, Italy; Department of Cardiology, San Paolo Hospital, University of Milan, Milan, Italy
- Dominic JR. Abrahms, MMBS, MD, MBA
- Center for Cardiovascular Genetics, Boston Children’s Hospital, Harvard Medical School, Boston, USA
- Aris Anastasakis, MD
- Inherited Cardiovascular Diseases, Onassis Cardiac Surgery Centre, Athens, Greece
- Loizos Antoniades, MD
- University of Cyprus Medical School, Nicosia, Cyprus
- Athanasios Bakalakos, MD
- Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK
- Andreina Carbone, MD
- University of Naples Federico II, Naples, Italy
- Aman S. Coonar, MD
- Cardiothoracic Surgery, Royal Papworth Hospital, Cambridge University Health Partners, Cambridge, UK
- Juan Ramon Gimeno, MD
- Inherited Cardiac Disease Department (CSUR/ ERN Guard Heart), Virgen de la Arrixaca University Hospital, Murcia, Spain
- George Lazaros, MD
- George Lazaros, First Cardiology Department, School of Medicine, Hippokration General Hospital, National and Kapodistrian University of Athens, Athens, Greece
- Stamatis Lerakis, MD
- Department of Cardiology, Mount Sinai Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, NY
- Luisa Mestroni, MD
- Medicine/Cardiology, Genetics Program, University of Colorado Cardiovascular Institute, Aurora, USA
- George Papadopoulos, MD
- University of Athens Medical School, Athens, Greece
- Leandro Pecchia, MD
- University Campus Biomedico, Rome, Italy
- Francesca Romana Prandi, MD
- Weill Cornell, NY Presbyterian Hospital, New York, USA
- Petros Syrris, MD
- Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK
- Julia Cadrin-Turigny, MD
- Cardiovascular Genetics Center, Montréal Heart Institute, Faculty of Medicine, University of Montréal, Montréal, Québec, Canada
- Anargyros Vasilakis, MSc
- Representative of Naxos disease patients, Naxos, Cyclades, Greece
- Jeffrey E. Saffitz, MD, PhD
- Harvard Medical School, Department of Pathology, Beth Israel Deaconess Medical Center, Boston, USA
- Stamatios Gaetano Thiene, MD
- University of Padua, Medical School, Padua, Italy
- Perry M. Elliott, MD
- Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK
- Juan Pablo Kaski, MD
- Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK
- William J. McKenna, MD
- Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK
- Eduardo Bossone, MD
- University of Naples Federico II, Naples, Italy
- Giuseppe Limongelli, MD
- Department of Traslational Sciences, University of Campania ‘Luigi Vanvitelli’, Naples, Italy
- Adalena Tsatsopoulou, MD
- Precision Medicine Network in Cardiology Onassis Cardiac Surgery Center, Athens, Greece; Pediatric Clinic, Naxos, Cyclades, Greece; Address for correspondence: Dr Adalena Tsatsopoulou, Precision Medicine in Cardiology Network, Onassis Cardiac Surgery Centre, Athens, GR, Pediatric Clinic, Hora Naxos, Naxos 84300, Greece.
- Journal volume & issue
-
Vol. 4,
no. 2
p. 101547
Abstract
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments. Childhood cutaneous signs precede cardiac features, which are diagnosed by familial and genetic evaluation, electrocardiography and cardiac imaging. Disease progression necessitates holistic care with risk management and lifestyle adjustments, often needing treatment for arrhythmia and heart failure. Similar phenotypes have been linked to desmoplakin and rarely desmocollin2 gene variants, highlighting the importance of familial and genetic evaluation. This document summarizes current knowledge on Naxos disease and related cardiocutaneous syndromes and initiates an international endeavor to collect and study all global cases, aiming to improve understanding, treatment, and patient care through shared data and research.
