Naxos Disease and Related Cardio-Cutaneous Syndromes

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
Subjects:
Naxos disease
cardio-cutaneous syndrome
arrhythmogenic right ventricular cardiomyopathy
arrhythmogenic cardiomyopathies
plakoglobin
desmoplakin
Online Access:http://www.sciencedirect.com/science/article/pii/S2772963X24008287
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