RBM20 nucleotide sequence variant in a family with a dilated phenotype of left ventricular non-compaction

Aim. To demonstrate two generations of a family with a progressive course of left ventricular non-compaction (LVNC) and the presence of a RBM20 gene variant. Material and methods . Based on the multicenter registry of patients with LVNC, a family with LVNC with a dilated phenotype was selected at the National Medical Research Center for Therapy and Preventive Medicine. Next generation sequencing was performed on a Nextseq 550 systen (Illumina, USA). For clinical interpretation, nucleotide sequence variants in the genes associated with LVNC development were selected according to the available literature data, with frequencies