Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome

KILIÇ T., Babaoglu K., Aygün F., VURAL A., Ural D., Agacdiken A., ...Daha Fazla

International Journal of Cardiology, cilt.115, sa.3, 2007 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 115 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1016/j.ijcard.2006.08.097
  • Dergi Adı: International Journal of Cardiology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Carvajal syndrome, cell adhesion cardiomyopathy, Naxos disease
  • Kocaeli Üniversitesi Adresli: Evet

Özet

Naxos disease is an autosomal recessively inherited familial syndrome characterized by woolly hair, palmoplantar keratoderma and a cell adhesion cardiomyopathy, especially arrhytmogenic right ventricular dysplasia (ARVD). Carvajal syndrome is a variant of Naxos disease in which curly or woolly hair, biventricular - predominantly left ventricular involvement were seen. Mutations in genes encoding the cell adhesion proteins like plakoglobin and desmoplakin were related with these syndromes. We report a 17-year-old boy and his family findings with curly hair, palmoplantar hyperkeratosis, ARVD and left ventricular involvement. The family was of Arabic origin, and a third-degree consanguinity was reported between the parents. They are from east part of Turkey and there were no relatives from Cyclades Island (Greece). Patient's younger brother had ARVD without cutaneous manifestations of the syndrome and his grand father had mild ARVD, curly hair and palmoplantar hyperkeratosis. © 2006.