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- W3088265429 abstract "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.This article reviews historic background, epidemiology, clinical characteristics, genetics, and pathogenesis as well as therapeutic management and future perspectives.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." @default.
- W3088265429 created "2020-10-01" @default.
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- W3088265429 date "2020-10-08" @default.
- W3088265429 modified "2023-10-03" @default.
- W3088265429 title "Naxos disease – a narrative review" @default.
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- W3088265429 doi "https://doi.org/10.1080/14779072.2020.1828064" @default.
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