Carvajal syndrome: A brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene

Abstract

Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 autosomal dominant and autosomal recessive mutations of the desmoplakin (DSP) gene are known, causing skin and cardiac disorders. The article presents a rare clinical case of Carvajal syndrome (OMIM 605676), associated with compound heterozygous mutations, with the classic triad of symptoms (the phenotype of dilated cardiomyopathy, keratoderma, and woolly hair), which was first identified in Eastern Europe (Belarus). A brief literature review of the problems and issues of differential diagnosis are presented in the article in the form of a comparative analysis of Carvajal syndrome with phenotypically similar pathology – Naxos syndrome, caused by mutations in the gene encoding another desmosomal protein – Placoglobin (Naxos syndrome, OMIM 601214), and leading to the development of arrhythmogenic right ventricular cardiomyopathy.