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 Carvaj...

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Bibliographic Details
Published in:Indian pediatrics 2013-06, Vol.50 (6), p.596-598
Main Authors: Salam, Anooja Abdul, Remadevi, K S, Kurup, Renu P
Format: Article
Language:English
Subjects:
Arrhythmogenic Right Ventricular Dysplasia - diagnosis
Cardiomyopathies - diagnosis
Child
Female
Hair Diseases - diagnosis
Humans
Keratoderma, Palmoplantar - diagnosis
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Summary: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.
ISSN:0974-7559