Magnetic Resonance Imaging Characteristics in Carvajal Syndrome (Variant of Naxos Disease)

Abstract

Naxos disease is an autosomal recessively inherited familial syndrome that is characterized by woolly hair, palmoplantar keratoderma, and a cell adhesion cardiomyopathy, specifically an arrhythmogenic right ventricular dysplasia.1 This cardiocutaneous syndrome was first reported in the Hellenic island of Naxos. Cases also have been reported in other Hellenic islands, as well as in Turkey, Israel, and Saudi Arabia.2 Apart from a small minority that show woolly hair and a few ECG or echocardiographic abnormalities not fulfilling the criteria for arrhythmogenic right ventricular dysplasia/cardiomyopathy, heterozygotes display normal phenotype.3 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. A 2-bp deletion in the plakoglobin gene has been identified as the cause of Naxos disease. In Carvajal syndrome, 2 different mutations of the desmoplakin gene have been found as causative genes.3 These mutations in genes encoding desmosomal proteins cause defects in the linking sites of these proteins and consequently can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium, and fibrofatty replacement. The affected members of both syndromes have woolly hair at birth, whereas palmoplantar keratoderma appears during the first year of life, when infants start using their extremities.3 In Naxos disease, the cardiomyopathy clinically manifests in adolescence. Patients may develop progressive heart disease involving the right or both ventricles. Symptoms of right heart failure are found in the final …