Arrhythmogenic right ventricular cardiomyopathy, Naxos island disease and Carvajal syndrome

Ivan Malčić, Bruno Buljević


The aim of this article is to present arrhythmogenic right ventricular cardiomyopathy (ARVC) and the associated cardiocutaneous syndromes, Naxos and Carvajal, with extension on the left ventricle and a new mutation of the desmoplakin gene. ARVC is an inherited cardiomyopathy characterized by myocyte necrosis, dominantly in the right ventricle. It is a significant cause of sudden death in children and adolescents. A thorough family history and modern diagnostic and treatment approach are prerequisites for prevention of sudden death syndrome. Diagnosis is more often established in adults than in children. Within ARVC there are two entity forms, referred to as the Naxos syndrome and the Carvajal syndrome. If ARVC also has palmoplantar keratoderma with distinctive hair features (woolly hair), it is described as Naxos syndrome, but if cardiomyopathy is spread over both ventricles, with even more severe changes on the left ventricle, the entity is referred to as Carvajal syndrome. Inheritance is autosomal recessive, and the mutation is in the desmoplakin gene. Genetic heterogeneity is less pronounced than in the Naxos syndrome. Typically, the disease mostly attacks the left ventricle.

Conclusion – In order to prevent sudden cardiac death in children, it is important to recognize the special criteria for ARVC in children, published in 2010. These state the spectrum of phenotypic expressions with the primary changes to the right ventricle, but with the spread of cardiomyopathy to the left ventricle (Carvajal syndrome), and cardiocutaneous changes (Naxos syndrome).


ARVC; Naxos-Carvajal disease; Diagnostic criteria; SCD prevention; Children

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