New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy

Abstract

We present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of LMNA gene, previously considered a mutation of unknown clinical significance. The presented clinical case demonstrates a radical change in patient treatment strategies in the context of the widespread introduction of molecular genetic research methods into practice.

Keywords

• cardiomyopathy
• laminopathy
• genome-wide sequencing
• sudden cardiac death
• heart failure
• atrioventricular block