Naxos disease is a recessive inherited condition with arrhythmogenic right ventricular dysplasia (ARVD) and a peculiar cutaneous phenotype (woolly hair and a palmoplantar keratoderma). Woolly hair appears from birth, palmoplantar keratoderma develops during childhood and cardiomyopathy is clinically manifested by adolescence. Patients present with syncope, sustained ventricular tachycardia or sudden death. We report a case of a 14 year old boy from Spain, who was admitted into our emergency room after being resuscitated from cardiac arrest, secondary to malignant ventricular tachycardia that developed while he was playing basketball.
Miocardiopatía dilatada en las displasias del ectodermo. Observaciones electroecocardiográficas en la hiperqueratosis palmoplantar con pelo lanoso. Rev Esp Cardiol 2000;53:1296-300.
Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome. Int J Cardiol 2007;115:122-5.
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications. Int J Cardiol 2007;118:275-7.
Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal síndrome. Ann Trop Paediatr 2006;26:73-7.
Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986,56:321-6.
Naxos disease and Carvajal syndrome: Cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004;13:185-94.
Wooly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy. Pediatr Cardiol 2005;26:470-2.
Naxos disease: Cardiocutaneous syndrome due to cell adhesión defect. Orphanet J Rare Dis 2006,13:1-4.