Variants of RBM20 gene in pediatric patients with dilated cardiomyopathy

Abstract

Российский кардиологический журнал 2019; 24 (10) Aim. Description of three clinical cases of pediatric patients with dilated cardiomyopathy (DCMP) and an analysis of their genetic causes. Material and methods. Using the method of targeted sequencing, data were obtained on the presence of pathogenic variants of the RBM20 gene in three pediatric patients with DCMP. Results. Three cases of childhood DCMP development, associated with structural disorders in the RBM20 gene, are particularly described. It is known that RBM20 is involved in the splicing of mRNA of the TTN gene encoding the titin protein. A splicing disorder associated with pathogenic variants in the RBM20 gene can lead to a change in biomechanical and signaling processes in myocardial cells, causing pathological dilated remodeling and rhythm disorders. Conclusion. Variants in the RBM20 gene are associated with severe DCMP with a childhood debut. In some cases, the progression of RBM20-associated cardiomyopathies is associated with an infectious disease. Further study of the molecular mechanisms of the pathogenesis of DCMP associated with pathogenic variants in the TTN and RBM20 genes is extremely relevant for both clinical cardiology and fundamental medicine.