New variant of MYH7 gene nucleotide sequence in familial non-compaction cardiomyopathy with benign course

Abstract

Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis and prognosis, as well as to determine clinical course features. Aim. To demonstrate a case of LVNC familial form with a stable benign course and to assess the possible relationship of the detected mutation with the disease prognosis. Material and methods. A family with LVNC was included in the study. The patient with LVNC and his 1st and 2nd degree of kinship relatives underwent clinical and instrumental examination and exome sequencing. LVNC was diagnosed in proband and proband's father. LVNC diagnosis was established basing on echo and magnetic resonance imaging (MRI) criteria. Results. This article presents the results of a comprehensive clinical and instrumental examination of a family with LVNC with a new variant in the MYH7 gene, the absence of intramyocardial fibrosis according to MRI of the heart and a favorable disease course, both in proband's father and proband himself. A comparative analysis of the data obtained with the results of recent large-scale studies and meta-analyses devoted to the study of prognostic factors in patients with LVNC, with identified variants in the MYH7 gene. Conclusions. The variant of p.His1338Pro identified in the MYH7 gene may be associated with the development of LVNC with a benign course.