Key result
Novel heterozygous LMNA p.E372 variant is linked to severe dilated cardiomyopathy with 17% LVEF.
Why the study?
The diagnosis of primary genetically determined dilation cardiomyopathy requires clarification of nosological origins and specific diagnostic approaches.
Case Report (n=1)
Highlights the clinical management and identification of a novel LMNA gene mutation (p.E372) in a young patient with rapidly progressive primary dilated cardiomyopathy.
Does not change management in LMNA cardiomyopathy; extends variant spectrum but leaves pathogenicity open.
The primary diagnosis of “dilation cardiomyopathy” is syndromal, and demands clarification of nosological origins. In the article, the specifics of such diagnostics is discussed. Clinical case is provided that illustrates the ways of management, diagnostics and treatment of the essential (primary, genetically determined) dilation cardiomyopathy. Patient of 22 year old with no family history, at the ages 20 and 21 y.o. had cardioembolic strokes. Paroxysmal atrial fibrillation was found, raised creatine kinase levels up to 349-1045 U/L, decreased ejection fraction 17%. Heart failure rapidly progressed. In endomyocardial biopsy there was homogenisation of cardiomyocytes, subendocardial lipomatosis with borderline virus-negative myocarditis. By Senger direct sequencing, the novel variant p.E372 in gene LMNA was found, heterozygous. Implantation of CRT-D was done, and in 4 months — cardiac transplant.
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Blagova et al. (2017) conducted a case report in Primary (genetically determined) dilation cardiomyopathy (n=1). CRT-D implantation and cardiac transplant was evaluated. A novel heterozygous p.E372 variant in the LMNA gene was identified in a 22-year-old patient with primary dilation cardiomyopathy and an ejection fraction of 17% who required a cardiac transplant.
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