Naxos Disease and Related Cardio-Cutaneous Syndromes

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 myocardia...

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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:JACC: Advances
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772963X24008287
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author 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
author_facet 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
author_sort Alexandros Protonotarios, MD
collection DOAJ
description 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.
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spelling doaj-art-868a90fb308d409abc871e88a362c1b82025-01-12T05:26:21ZengElsevierJACC: Advances2772-963X2025-02-0142101547Naxos Disease and Related Cardio-Cutaneous SyndromesAlexandros Protonotarios, MD0Angeliki Asimaki, Ph.D1Cristina Basso, MD2Zafeirenia Xylouri, MD3Emanuele Monda, MD4Ioannis Protonotarios, MD5Giulia Crisci, MD6Dominic JR. Abrahms, MMBS, MD, MBA7Aris Anastasakis, MD8Loizos Antoniades, MD9Athanasios Bakalakos, MD10Andreina Carbone, MD11Aman S. Coonar, MD12Juan Ramon Gimeno, MD13George Lazaros, MD14Stamatis Lerakis, MD15Luisa Mestroni, MD16George Papadopoulos, MD17Leandro Pecchia, MD18Francesca Romana Prandi, MD19Petros Syrris, MD20Julia Cadrin-Turigny, MD21Anargyros Vasilakis, MSc22Jeffrey E. Saffitz, MD, PhD23Stamatios Gaetano Thiene, MD24Perry M. Elliott, MD25Juan Pablo Kaski, MD26William J. McKenna, MD27Eduardo Bossone, MD28Giuseppe Limongelli, MD29Adalena Tsatsopoulou, MD30Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UKCardiovascular and Genomics Research Institute of City, St George’s University of London, London, UKUniversity of Padua, Medical School, Padua, ItalyAcute Medicine, Southampton General Hospital, Southampton, UKDepartment of Traslational Sciences, University of Campania ‘Luigi Vanvitelli’, Naples, ItalyCardiovascular and Genomics Research Institute of City, St George’s University of London, London, UKUniversity of Naples Federico II, Naples, Italy; Department of Cardiology, San Paolo Hospital, University of Milan, Milan, ItalyCenter for Cardiovascular Genetics, Boston Children’s Hospital, Harvard Medical School, Boston, USAInherited Cardiovascular Diseases, Onassis Cardiac Surgery Centre, Athens, GreeceUniversity of Cyprus Medical School, Nicosia, CyprusCentre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UKUniversity of Naples Federico II, Naples, ItalyCardiothoracic Surgery, Royal Papworth Hospital, Cambridge University Health Partners, Cambridge, UKInherited Cardiac Disease Department (CSUR/ ERN Guard Heart), Virgen de la Arrixaca University Hospital, Murcia, SpainGeorge Lazaros, First Cardiology Department, School of Medicine, Hippokration General Hospital, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Cardiology, Mount Sinai Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, NYMedicine/Cardiology, Genetics Program, University of Colorado Cardiovascular Institute, Aurora, USAUniversity of Athens Medical School, Athens, GreeceUniversity Campus Biomedico, Rome, ItalyWeill Cornell, NY Presbyterian Hospital, New York, USACentre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UKCardiovascular Genetics Center, Montréal Heart Institute, Faculty of Medicine, University of Montréal, Montréal, Québec, CanadaRepresentative of Naxos disease patients, Naxos, Cyclades, GreeceHarvard Medical School, Department of Pathology, Beth Israel Deaconess Medical Center, Boston, USAUniversity of Padua, Medical School, Padua, ItalyCentre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UKCentre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UKCentre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UKUniversity of Naples Federico II, Naples, ItalyDepartment of Traslational Sciences, University of Campania ‘Luigi Vanvitelli’, Naples, ItalyPrecision 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.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.http://www.sciencedirect.com/science/article/pii/S2772963X24008287Naxos diseasecardio-cutaneous syndromearrhythmogenic right ventricular cardiomyopathyarrhythmogenic cardiomyopathiesplakoglobindesmoplakin
spellingShingle 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
Naxos Disease and Related Cardio-Cutaneous Syndromes
JACC: Advances
Naxos disease
cardio-cutaneous syndrome
arrhythmogenic right ventricular cardiomyopathy
arrhythmogenic cardiomyopathies
plakoglobin
desmoplakin
title Naxos Disease and Related Cardio-Cutaneous Syndromes
title_full Naxos Disease and Related Cardio-Cutaneous Syndromes
title_fullStr Naxos Disease and Related Cardio-Cutaneous Syndromes
title_full_unstemmed Naxos Disease and Related Cardio-Cutaneous Syndromes
title_short Naxos Disease and Related Cardio-Cutaneous Syndromes
title_sort naxos disease and related cardio cutaneous syndromes
topic Naxos disease
cardio-cutaneous syndrome
arrhythmogenic right ventricular cardiomyopathy
arrhythmogenic cardiomyopathies
plakoglobin
desmoplakin
url http://www.sciencedirect.com/science/article/pii/S2772963X24008287
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