Naxos disease and Carvajal variant.
An 11-yr-old girl, born out of a consanguineous marriage presented with recurrent exertional syncope due to ventricular tachycardia. She had woolly hair, palmoplantar hyperkeratosis and mild cardiomegaly. Echocardiogram revealed mild left ventricular dysfunction. Features were consistent with Carvajal variant of Naxos disease, an arrhythmogenic cardiomyopathy with autosomal recessive inheritance.
Department of Pediatric Cardiology, Malabar Institute of Medical Sciences, Calicut Dist, Kerala, India.
Anooja Abdul
AA
Salam
K S
KS
Remadevi
Renu P
RP
Kurup
D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis*; D009202:Cardiomyopathies / Q000175:diagnosis*; D002311:Cardiomyopathy, Dilated; D002648:Child; D005260:Female; D006201:Hair Diseases / Q000175:diagnosis*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis*