title: Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.
abstract: Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. This disease is a heart muscle disorder causing life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death. The pathological hallmark of the disease is the progressive replacement of myocardial cells by fat and fibrous tissue. It appears in families descending from the Hellenic island of Naxos. We presented a 13-year-old Turkish boy with Naxos disease associated with ventricular tachycardia because of its rarity, and reviewed the literature.
authors.affiliation: Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey. nnarin@erciyes.edu.tr
authors.forename: Nazmi
authors.initials: N
authors.lastname: Narin
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akcakus
authors.forename: Tamer
authors.initials: T
authors.lastname: Gunes
authors.forename: Alpay
authors.initials: A
authors.lastname: Celiker
authors.forename: Ali
authors.initials: A
authors.lastname: Baykan
authors.forename: Kazim
authors.initials: K
authors.lastname: Uzum
authors.forename: Ayten
authors.initials: A
authors.lastname: Ferahbas
mesh_terms: D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000150:complications / Q000175:diagnosis; D006201:Hair Diseases / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000175:diagnosis; D008297:Male; D014421:Turkey