Protonotarios, Alexandros;
Asimaki, Angeliki;
Basso, Cristina;
Xylouri, Zafeirenia;
Monda, Emanuele;
Protonotarios, Ioannis;
Crisci, Giulia;
... Tsatsopoulou, Adalena; + view all
(2024)
Naxos Disease and Related Cardio-Cutaneous Syndromes.
JACC: Advances
, 4
(2)
, Article 101547. 10.1016/j.jacadv.2024.101547.
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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.
| Type: | Article |
|---|---|
| Title: | Naxos Disease and Related Cardio-Cutaneous Syndromes |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jacadv.2024.101547 |
| Publisher version: | https://doi.org/10.1016/j.jacadv.2024.101547 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, Naxos disease, cardio-cutaneous syndrome, arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic cardiomyopathies, plakoglobin, desmoplakin, RIGHT-VENTRICULAR CARDIOMYOPATHY, PALMOPLANTAR KERATODERMA, WOOLLY HAIR, DILATED CARDIOMYOPATHY, ANTIARRHYTHMIC-DRUGS, CARVAJAL SYNDROME, HEART-FAILURE, PLAKOGLOBIN, ASSOCIATION, MUTATION |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10212472 |
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