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Cardiomyopathy dilated with woolly hair and keratoderma MeSH Supplementary Concept Data 2024


MeSH Supplementary
Cardiomyopathy dilated with woolly hair and keratoderma
Unique ID
C535581
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535581
Entry Term(s)
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Carvajal syndrome
DCWHK
Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Registry Number
0
Heading Mapped to
*Cardiomyopathy, Dilated
*Hair Diseases
*Keratoderma, Palmoplantar
Frequency
29
Note
A hereditary autosomal recessive disorder characterized by epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy. Woolly hair is present at birth; palmoplantar keratoderma and other keratotic signs appear around the first year of life. Cardiac abnormalities may be detected by electrocardiograph in asymptomatic patients and include dilation of the left ventricle leading to CONGESTIVE HEART FAILURE and death. Mutations in the DSP gene have been identified. OMIM: 605676
Date of Entry
2010/08/25
Revision Date
2020/02/21
Cardiomyopathy dilated with woolly hair and keratoderma Preferred
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