Key result
Whole genome sequencing identifies a novel LMNA mutation in familial cardiomyopathy, altering treatment strategy.
Case Report (n=1)
Identification of a newly classified pathogenic LMNA mutation through genome sequencing enabled accurate risk stratification and guided life-saving sudden cardiac death prevention with a CRT-D in a patient with familial cardiomyopathy.
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.
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Kashtanova et al. (2025) conducted a case report in Familial cardiomyopathy (n=1). Whole genome sequencing was evaluated on Genetic diagnosis and clinical management. Whole genome sequencing identified a novel pathogenic mutation in the LMNA gene (c.134delA:p.Y45Sfs*51) in a patient with familial cardiomyopathy, leading to a change in treatment strategy.
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