Familial Left Ventricular Noncompaction And Conduction Abnormalities. A Case Report with Genetic Mutation

Abstract

Background: Left Ventricular Noncompaction (LVNC) is a rare form of cardiomyopathy resulting from arrest in the normal endomyocardial compaction, characterized by the presence of prominent trabeculations and deep intertrabecular recesses. Clinical manifestations range from being asymptomatic, heart failure, arrhythmia and thromboembolism. Atrioventricular block (AV) block is a rare presentation.

Genetic landscape in Russian patients with familial left ventricular noncompaction

“…The variants in VCL, SLC22A5, and FHOD3 have been shown earlier to be associated with HCM or dilated cardiomyopathies (DCM) (13-16, 34-36, 58-61). In the case of VCL and SLC22A5, there exist only three publications confirming their association with LVNC (31)(32)(33). These data support the overlap of genetic pathogenesis between the various cardiomyopathies.…”

“…The largest number of variants was found in the MYH7 (27.3%, 15 variants, one of them de novo rs730880156) and TTN (14.5%, eight variants) genes. We have also identified pathogenic variants in the VCL and SLC22A5 genes that have a limited number of publications (31)(32)(33) confirming their association with LVNC but were not listed in the last review of the LVNC genes (6) (see Table 2, Supplementary Table S3). Moreover, we identified one pathogenic variant in the FHOD3 gene that was previously associated only with hypertrophic cardiomyopathy (HCM) (34)(35)(36).…”