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

被引:1
作者
Mandal, Krishna Deo [1 ]
Shrestha, Pun Narayan [1 ]
Ghimire, Anjila [1 ]
Joshi, Prakash [1 ]
Agrawal, Sumit [1 ]
Shrestha, Prapti [1 ]
机构
[1] Kanti Childrens Hosp, Kathmandu, Nepal
关键词
cardiomyopathy; case report; palmoplantar keratoderma; rare disease;
D O I
10.31729/jnma.7102
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
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.
引用
收藏
页码:187 / 191
页数:5
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