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Naxos Disease

By Nikos Protonotarios and Adalena Tsatsopoulou

Abstract

Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of ARVD/C with a cutaneous phenotype, characterised by woolly hair and palmoplantar keratoderma.2 Epidemiology Naxos disease was first reported in 1986 by Protonotarios et al in patients originating from the Hellenic island of Naxos.2,3 Apart from Naxos, cases have also been reported from other Hellenic islands, as well as from Turkey, Israel and Saudi Arabia.4 The prevalence of the disease in Hellenic islands reaches 1:1000. A variety of Naxos disease presenting at a younger age with more pronounced left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome)

Topics: Indian Pacing and Electrophysiology Journal
Publisher: Indian Pacing and Electrophysiology Group
Year: 2005
OAI identifier: oai:cogprints.org:4215
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    Citations

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    2. Cardiac abnormalities in familial palmoplantar keratosis.
    3. (1998). Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
    4. Genotypephenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.
    5. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
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    8. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
    9. (1996). Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation
    10. (2005). Tsatsopoulou A: Naxos disease and Carvajal syndrome: cardiocutaneous Indian Pacing and Electrophysiology

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