Neonatal case of dilated cardiomyopathy associated with novel MYH7 and TBX5 genetic variants

Abstract

In the present study we report on a new case of severe early-onset dilated cardiomyopathy (DCM). In family medical history, both DCM phenotypes of different expressivity and congenital structural heart defects (CHDs) were revealed. Using high-throughput sequencing technology, we analyzed a full spectrum of genetic variants in the proband`s exome. On the results of whole-exome sequencing, we identified a novel likely-pathogenic missense variant in MYH7 encoding beta heavy chain of cardiac myosin (exon 27, c.G3578T, p.R1193L). Additionally, the proband possessed a novel missense variant of uncertain clinical significance in TBX5 (exon 7, c.T988A, p.C330S, ENST00000526441). The data obtained suggest that combination of two genetic variants in cardiac genes could cause the deterioration of the DCM clinical phenotype.