Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature

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BAYKAN A., Olgar S., Argun M., Ozyurt A., PAMUKÇU Ö., ÜZÜM K., ...Daha Fazla

ANATOLIAN JOURNAL OF CARDIOLOGY, cilt.15, sa.5, ss.404-408, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 5
  • Basım Tarihi: 2015
  • Doi Numarası: 10.5152/akd.2014.5413
  • Dergi Adı: ANATOLIAN JOURNAL OF CARDIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.404-408
  • Anahtar Kelimeler: Naxos disease, Carvajal syndrome, cardiomyopathy, woolly hair, keratoderma, RIGHT-VENTRICULAR CARDIOMYOPATHY, WOOLLY HAIR, PALMOPLANTAR KERATODERMA, DILATED CARDIOMYOPATHY, RECESSIVE MUTATION, PLAKOGLOBIN, IDENTIFICATION, DELETION, GENE, SKIN
  • Erciyes Üniversitesi Adresli: Evet

Özet

Objective: Naxos disease is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. Carvajal syndrome is characterized by palmoplantar keratoderma, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity. The aim of this study was to evaluate the cutaneous and cardiac findings and genotype-phenotype relationship of six patients diagnosed with Naxos/Carvajal syndrome.