TWO MUTATIONS CONCOMITANCE IN FEMALE PATIENT WITH ARRHYTHMIC TYPE OF NONCOMPACTION MYOCARDIUM SYNDROME

Non-compaction myocardium syndrome of the left ventricle (NCM) is relatively new diagnosis. There is no consensual approach to classification, diagnostics, as treatment and management of patients with NCM till recently. Predictive value of the observed genetic mutations is not studied good enough too.

Aim. The article is focused on a clinical case of female patient with NCM and lifethreatening ventricular rhythm disorders, revealed two independent mutations in genes coding sarcomere proteins of myocardium.

Material and methods. Clinical and instrumental study, except standard methods, included serological diagnostics of myocarditis, defining a genome of cardiotropic viruses in blood, and MSCT of the heart; genetic study included sequencing on the platform Ion Torrent of the coding sequences and attached inthrone regions on 16 genes, which mutations might lead to NCM.

Results. In current study we performed clinical, instrumental and genetic investigation of 59-year old female patient with NCM and sustained VT paroxysms of unknown duration that had been being registered since her 47 age, with frequent VE (up to 24 thousands per day). Ventricular dysrhythmias did not resolve regardless two interventions on RFA of the focus of arrhythmia and drug treatment. At the age 56 cardioverter-defibrillator was implanted, and during 3 years of follow-up there were 13 relevant shocks. There were high titers of antimyocardial antibodies. Differential diagnostics was about myocarditis, ACRV and NCM. Genetic test revealed two mutations heterozygous: p.Q1233* gene MYBPC3 and p.R237W in gene MYH7. These genes’ mutations are common findings in NCM. If two mutations found, it is a factor of higher risk of SCD and progradient course of the disease.

Conclusion. Genetic changes (mutations) that influence morphology of myocardium proteins, determine primary cardiomyopathies. However, the velocity of a disease course and real conditions of a patient do determine non-genetic factors as well, including sex, age, comorbidities, infectious or immune myocarditis, range and effectiveness of treatment.

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