Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

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.

Also known as: Carvajal syndrome, DCWHK, KWWH type II, arrhythmogenic cardiomyopathy with wooly hair and keratoderma, dilated cardiomyopathy with wooly hair and keratoderma, keratoderma with woolly hair type II, keratoderma with wooly hair type II, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair

0 clinical trials for this condition and its sub-types, 0 tagged with Arrhythmogenic cardiomyopathy with wooly hair and keratoderma itself.