Abstract

Aim. To study the prevalence of RBM20 gene polymorphisms and their relationship with the structural and functional left atrial (LA) characteristics in patients with coronary artery disease and heart failure with reduced ejection fraction (HFrEF).Material and methods. The study included 138 men aged 55,8±6,6 years with prior myocardial infarction ³12 months ago and HFrEF (class II-IV heart failure, left ventricular ejection fraction (Simpson’s methods), 25,1±7,2%). The control group consisted of 384 healthy donors. Genotyping of two RBM20 polymorphic variants (rs942077 and rs35141404) was performed by real-time polymerase chain reaction.Results. The prevalence of RBM20 polymorphisms did not differ in the HFrEF cohort and the control group. The GA rs35141404 genotype was more common among patients with a less pronounced increase in LA volume index (LAVI) (p=0,034). The minor A allele rs35141404 was associated with a protective effect on severe LA remodeling. However, this association did not reach the level of significance.Conclusion. For the rs942077 and rs35141404 polymorphic variants of the RBM20 gene, no significant associations were found with the LA size and atrial fibrillation presence in patients with HFrEF and old myocardial infarction. There was a tendency towards the association of the A allele and the GA rs35141404 genotype with a protective effect on LA remodeling. The data obtained confirm the need for further search for genotype-phenotype relationships of a wider population of patients with heart failure and coronary artery disease.

Highlights

  • RBM20 gene variants associated with left atrial dilatation in patients with old myocardial infarction and heart failure with reduced ejection fraction

  • For the rs942077 and rs35141404 polymorphic variants of the RBM20 gene, no significant associations were found with the left atrial (LA) size and atrial fibrillation presence in patients with heart failure with reduced ejection fraction (HFrEF) and old myocardial infarction

  • There was a tendency towards the association of the A allele and the GA rs35141404 genotype with a protective effect on LA remodeling

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Summary

Conclusion

For the rs942077 and rs35141404 polymorphic variants of the RBM20 gene, no significant associations were found with the LA size and atrial fibrillation presence in patients with HFrEF and old myocardial infarction. Vakhrushev Yu. A.* ORCID: 0000-0001-8911-1927, Kuular A. A. RBM20 gene variants associated with left atrial dilatation in patients with old myocardial infarction and heart failure with re­d­ uced ejection fraction. В то же время влияние генетических факторов на отдельные структурнофункцион­альные показатели сердечной мышцы в процессе развития ХСН и ремоделирования миокарда оставалось мало изученным. Данный транскрипционный фактор экспрессируется асимметрично в процессе различных стадий развития сердца и играет ключевую роль в кардиогенезе, а недостаточность его функции приводит к развитию структурных и электрофизиологических нарушений в предсердиях [4]. При­мечательно, что 2 вышеназванных гена, TTN и RBM20, преимущественно ассоциированы с развитием дилатационной кардиомиопатии (ДКМП), а в последние 3 года большое внимание уделяется изучению роли их генетических вариантов в развитии аритмологических событий у пациентов с ХСН и ДКМП, в т.ч. При­мечательно, что 2 вышеназванных гена, TTN и RBM20, преимущественно ассоциированы с развитием дилатационной кардиомиопатии (ДКМП), а в последние 3 года большое внимание уделяется изучению роли их генетических вариантов в развитии аритмологических событий у пациентов с ХСН и ДКМП, в т.ч. и ФП, как при наследственных формах кардиомиопатий, так и в общей популяции [1, 9]

ОРИГИНАЛЬНЫЕ СТАТЬИ
Характеристика больных
Генотипы и аллели
Клиническая характеристика групп пациентов с СНнФВ в зависимости от ИОЛП

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