Carvajal syndrome

Also known as: Dilated left ventricular cardiomyopathy with woolly hair and keratoderma

Recessive cardiocutaneous syndrome with predominantly left ventricular cardiomyopathy.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: DSP

Etiology & mechanism

Desmoplakin variants impair desmosomes.

Gene(s) involved (1)

DSP

Symptoms & signs (4)

dilated cardiomyopathyheart failurestriate palmoplantar keratodermawoolly hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.