Carvajal Syndrome- A Variant of Naxos Disease: A Case Report

Carvajal Syndrome- A Variant of Naxos Disease: A Case Report

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Carvajal syndrome is a rare variant of Naxos disease, a recessive mutation of the desmoplakin gene characterized by presence of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy, mainly left ventricular involvement. The main clinical complication is progressive heart disease which ma...

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Bibliographic Details
Main Authors: Krishna Deo Mandal, Pun Narayan Shrestha, Anjila Ghimire, Prakash Joshi, Sumit Agrawal, Prapti Shrestha
Format: Article
Language:English
Published: Nepal Medical Association 2022-02-01
Series:Journal of Nepal Medical Association
Subjects:
cardiomyopathy
case report
palmoplantar keratoderma
rare disease
Online Access:http://localhost/jnma/index.php/jnma/article/view/7102

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