MeSH Browser

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 Numbers: 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 MeSH Supplementary Concept Data 2025