Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.
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.
Narin
Nazmi
N
Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey. nnarin@erciyes.edu.tr
Akcakus
Mustafa
M
Gunes
Tamer
T
Celiker
Alpay
A
Baykan
Ali
A
Uzum
Kazim
K
Ferahbas
Ayten
A
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