Cardiocutaneous Syndrome: Naxos Disease

Abstract

Naxos disease is a recessively inherited condition, caused by mutation in genes encoding desmosomal proteins Plakoglobin. It is characterized by peculiar woolly hair, palmoplantar keratoderma with arrhythmogenic Right Ventricular dysplasia /cardiomyopathy. A syndrome (a variant of Naxos) with same cutaneous phenotype and predominant Left Ventricular involvement is CARVAJAL syndrome. Patients are at risk of sudden cardiac death due to cardiomyopathy. We herein report a rare case of Naxos disease in a 16 years old male born of a 3º consanguineous marriage, presented with features suggestive of congestive cardiac failure with clubbing (grade 1), woolly hair, and focal keratoderma over palms and soles. ECG demonstrated – inverted T waves (V1-V3), QRS prolongation and complete RBBB. Echocardiography revealed-severe biventricular dysfunction with EF-15-20%, severe MR, severe TR and PAH. Patient was treated with diuretics, ß blockers and ACE inhibitors. These children may need implantation of automatic cardioverter defibrillator to prevent arrhythmogenic attacks and sudden cardiac death. CONCLUSION: For child with woolly hair and palmoplantar keratoderma, the pediatrician should provide a cardiac assessment, considering Naxos/Carvajal disease associated cardiomyopathy. When an early diagnosis is made, life expectancy can be increased by treatment of Heart failure and arrhythmias. Keywords: Naxos disease, Palmoplantar keratoderma, Cardiomyopathy, Wolly hair