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, ss.404-408, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 15 Konu: 5
  • Basım Tarihi: 2015
  • Doi Numarası: 10.5152/akd.2014.5413
  • Dergi Adı: ANATOLIAN JOURNAL OF CARDIOLOGY
  • Sayfa Sayıları: ss.404-408

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.