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., ...More

ANATOLIAN JOURNAL OF CARDIOLOGY, vol.15, no.5, pp.404-408, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 5
  • Publication Date: 2015
  • Doi Number: 10.5152/akd.2014.5413
  • Journal Name: ANATOLIAN JOURNAL OF CARDIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.404-408
  • Keywords: 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 University Affiliated: Yes

Abstract

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.