/arrhythmogenic cardiomyopathy with wooly hair and keratoderma

arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Rare Disease

MONDO:0011581

Also Known As

Carvajal syndromeDCWHKKWWH type IIarrhythmogenic cardiomyopathy with wooly hair and keratodermadilated cardiomyopathy with woolly hair and keratodermadilated cardiomyopathy with wooly hair and keratodermakeratoderma with woolly hair type IIkeratoderma with wooly hair type IIpalmoplantar keratoderma with left ventricular cardiomyopathy and woolly hairpalmoplantar keratoderma with left ventricular cardiomyopathy and wooly hairwoolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndromewoolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndromewooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndromewooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndromecardiomyopathy dilated with woolly hair and keratodermacardiomyopathy dilated with wooly hair and keratodermacardiomyopathy, dilated, with woolly hair and keratodermacardiomyopathy, dilated, with wooly hair and keratodermaepidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathyepidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathywoolly hair - palmoplantar keratoderma - dilated cardiomyopathywoolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndromewooly hair - palmoplantar keratoderma - dilated cardiomyopathywooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome

Definition

A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.