Cardiocutaneous syndrome (Naxos disease) in a paediatric pat
Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation.

A 10-year-old boy who was the only child of his parents without consanguinity presented with episodic palpitation, progressive breathlessness and swelling of the body. Physical examination revealed wooly hair and keratoderma affecting the palms and soles. His pulse was 110/min, regular, blood pressure 90/70 mmHg, dependent edema, jugular venous pressure (JVP) raised, pansystolic murmur in tricuspid area and hepatomegaly.

Previous records revealed admission with VT treated with defibrillation. Resting ECG showed incomplete right bundle branch block (RBBB) with epsilon wave. Echocardiography revealed RV cardiomyopathy characterized by RV enlargement, regional hypokinesia, aneurysmal dilatation, impaired systolic function, and moderate tricuspid regurgitation.

A diagnosis of Naxos disease was made. He was treated with diuretics, ramipril and sotalol only to give temporary relief. Automated implantable cardioverter defibrillator (AICD) was thought of, but could not be afforded. Nine months after the diagnosis, while staying in his village home, he had sudden cardiac death.

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