Naxos disease – a narrative reviewShow others and affiliations
2020 (English)In: Expert Review of Cardiovascular Therapy, ISSN 1477-9072, E-ISSN 1744-8344, Vol. 18, no 11, p. 801-808Article in journal (Refereed) Published
Abstract [en]
Introduction
Naxos disease is a rare entity that manifests with woolly hair, keratosis of extremities, and cardiac manifestations that resemble arrhythmogenic right ventricular cardiomyopathy. It is inherited in an autosomal recessive pattern and mutations affecting plakoglobin and desmoplakin have been identified. There is an increased risk of arrhythmias, including sudden cardiac death at a young age. Right ventricular systolic dysfunction often progresses and left ventricular involvement may also occur.
Areas covered
This article reviews historic background, epidemiology, clinical characteristics, genetics, and pathogenesis as well as therapeutic management and future perspectives.
Expert opinion
The principles of evaluation and treatment are based on arrhythmogenic right ventricular cardiomyopathy (ARVC) and general heart failure guidelines, because specific data on Naxos disease are limited. Therefore, larger registries on Naxos disease are welcome in order to gain more knowledge about clinical course and risk stratification. Translational research on pathophysiological mechanisms has evolved, including promising approaches using stem cells for novel targets.
Place, publisher, year, edition, pages
Taylor & Francis , 2020. Vol. 18, no 11, p. 801-808
Keywords [en]
arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic cardiomyopathy, genetics, Naxos disease, sudden cardiac death
National Category
Clinical Medicine
Research subject
Sustainable Urban Development
Identifiers
URN: urn:nbn:se:hig:diva-34035DOI: 10.1080/14779072.2020.1828064ISI: 000577364900001PubMedID: 32966140Scopus ID: 2-s2.0-85092368585OAI: oai:DiVA.org:hig-34035DiVA, id: diva2:1472297
2020-10-012020-10-012021-02-17Bibliographically approved