A case of Carvajal syndrome presenting with dilated cardiomyopathy

Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy. We herein present a patient with heart failure and dilated cardiomyopathy who was diagnosed with Carvajal syndrome because of dermatologic manifestations.

A seven-year-old girl was referred to our clinic due to decompensated heart failure and clinical deterioration. The patient had severe weakness, tachycardia, and tachypnea. She had a complaint of getting tired quickly for three weeks, and she had shortness of breath and abdominal pain for the last two days. She had hepatomegaly and woolly hair. Mild keratoderma was present on the soles of her feet. Echocardiography demonstrated biventricular dilatation, significantly impaired left ventricular systolic function (ejection fraction 22%), and moderate to severe mitral and tricuspid regurgitation. Molecular genetic evaluation was performed because of cutaneous and cardiac findings, which demonstrated a desmoplakin gene mutation. Homozygous mutation c.4297C > T (p.Gln1433*) was identified in desmoplakin gene, and the diagnosis of Carvajal syndrome was confirmed.

Syndromic types of arrhythmogenic right ventricular cardiomyopathy such as Carvajal syndrome are rare diseases. Awareness about cutaneous manifestations and genetic evaluation would help diagnosis and prevention of sudden death. Genetic counselling is needed in familial cases.