Carvajal Syndrome: A Rare Variant of Naxos Disease

Carvajal syndrome also known as ‘Striate palmoplantar keratoderma with woolly hair and cardiomyopathy is a cutaneous condition inherited in an autosomal recessive pattern due to a defect in desmoplakin gene. The skin disease presents as a striate palmoplantar keratoderma particularly at sites of pressure. The patient is at risk of sudden cardiac death due to dilated cardiomyopathy associated with this entity. A variant of Naxos disease, reported as Carvajal syndrome,has been described in families from India and Ecuador. Clinically, it presents with the same cutaneous phenotype and predominantly left ventricular involvement.

Case Report:

11 years old boy presented with cough, breathlessness and easy fatigue ability for 3 months duration. On general examination the pt had fine brittlle lusterless scalp hair, pallor, stomatitis, keratotic skin over palm, sole and lower half of both lower limbs. Pt has tachycardia with HR 140/min, RR 40/min, BP 80/60 mmhg, SPO2 72%, raised JVP, with B/L basal crepitation’s, S3 gallop present. Echocardiographic examination revealed a dilatation of the right and left ventricles with a left ventricular ejection fraction of 35% and biventricular trabecular configuration, predominantly of the left ventricle and also grade I tricuspid and Mitral valve insufficiency (Figures 4 and 5). Patient was treated with diuretics, beta-blockers’ and ACE inhibitors. Read more..................