Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
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.
Also known as arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Carvajal syndrome, DCWHK, dilated cardiomyopathy with wooly hair and keratoderma, keratoderma with woolly hair type II, keratoderma with wooly hair type II, KWWH type II, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair, palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair, woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome, wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome — per MONDO