Carvajal Syndrome- A Variant of Naxos Disease: A Case Report
| Autor: | Krishna Deo Mandal, Pun Narayan Shrestha, Anjila Ghimire, Prakash Joshi, Sumit Agrawal, Prapti Shrestha |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Journal of Nepal Medical Association, Vol 60, Iss 246 (2022) |
| Druh dokumentu: | article |
| ISSN: | 0028-2715 1815-672X |
| DOI: | 10.31729/jnma.7102 |
| Popis: | 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 may lead to heart failure and sudden cardiac death in childhood and adolescence. Cardiomyopathy is diagnosed by Task Force Criteria. The goal of treatment is to prevent sudden cardiac death by lifestyle modification and regular clinical monitoring with pharmacotherapy. We report a nine years female who had skin and hair abnormality and was admitted with features of heart failure. She was clinically diagnosed as Carvajal syndrome, an under-recognized cardio cutaneous manifestation in children. Clinicians should be aware, if any child present with keratoderma of palm and soles with woolly hair since birth should evaluate for cardiomyopathy. Genetic tests should be done whenever available, for confirming the diagnosis and counseling. |
| Databáze: | Directory of Open Access Journals |
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