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Cardiology · Cardiology / Genetic cardiology

Carvajal syndrome

also: Dilated left ventricular cardiomyopathy with woolly hair and keratoderma

Recessive cardiocutaneous syndrome with predominantly left ventricular cardiomyopathy.

Specialty
Cardiology
Subspecialty
Cardiology / Genetic cardiology
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved
DSP
Alternative names & eponyms
Dilated left ventricular cardiomyopathy with woolly hair and keratoderma

Etiology & mechanism

Desmoplakin variants impair desmosomes.

Gene(s) involved (1)

DSP

Symptoms & signs (4)

In plain terms, someone with Carvajal syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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