Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): Report of a Turkish boy


Narin N., Akçakuş M., Güneş T., Çeliker A., Baykan A., Uzum K., ...More

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, vol.26, no.12, pp.2326-2329, 2003 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 12
  • Publication Date: 2003
  • Doi Number: 10.1111/j.1540-8159.2003.00370.x
  • Journal Name: PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2326-2329
  • Keywords: Naxos disease, arrhythmogenic right ventricular cardiomyopathy, palmoplantar keratoderma, wolly hair, PALMOPLANTAR KERATODERMA, SUDDEN-DEATH, DYSPLASIA, DELETION
  • Erciyes University Affiliated: Yes

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 fiat 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.