No abstract

No abstract

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins. However, HCM is associated with rare genetic variants with limited data about its clinical course and prognosis, and existing risk prediction models are not validated for such patients’ cohorts. TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, a significant degree of fibrosis detected by magnetic resonance imaging, and clear indications for implantable cardioverter-defibrillator. One of the cases includes the first description of TRIM63-HCM with extreme hypertrophy. The presented cases are discussed in light of molecular consequences that might underlie cardiac and muscle phenotype in patients with mutations of TRIM63, the master regulator of striated muscle mass.

Цель. Оценить данные реальной клинической практики по ведению больных с застойной сердечной недостаточностью в условиях городской больницы скорой медицинской помощи для разработки ключевых направлений программы по совершенствованию медицинской помощи больным хронической сердечной недостаточностью (ХСН). Материал и методы. Проанализировано 343 случая госпитализации в связи с декомпенсацией ХСН. При поступлении 88% больных имели III-IV функциональный класс ХСН. Качество оказания медицинской помощи оценивалось согласно критериям, утвержденным Минздравом России и обществом специалистов по сердечной недостаточности. Результаты. Наряду с практически 100% выполнением рутинного инструментального обследования (электрокардиография, рентгенография органов грудной клетки), эхокардиография проведена у 64%, а суточное мониторирование электрокардиограммы у 3% больных. Стандартное лабораторное обследование только в 15% и 14% случаев включало определение концентрация калия и натрия в сыворотке крови. Уровень лактатдегидрогеназы, щелочной фосфатазы и γ-глутамилтранспептидазы оценивался менее чем у 5% больных. В стационаре 94% пациентов получали терапию β-адреноблокаторами, 93% ингибиторами ангиотензипревращающего фермента/блокаторами рецепторов ангиотензина II типа, 74% антагонистами минералокортикоидных рецепторов и 88% диуретиками. Однако 48% пациентов получали парентеральную диуретическую терапию до выписки из стационара и не были адаптированы к приему пероральных диуретиков. Динамика веса на фоне диуретической терапии контролировалась только у 13% больных. Вместе с тем, при выписке количество пациентов, имеющих III-IV функциональный класс ХСН, составило 38%. Заключение. Несмотря на положительную динамику клинического состояния пациентов за время госпитализации, выявлены недостатки, которые могут повлиять на эффективность лечения больных ХСН. Вместе с тем, частота повторных госпитализаций, прежде всего, обусловлена отсутствием преемственности в оказании стационарной и амбулаторной помощи. Поэтому разработка системы автоматизированного получения, интеграции, хранения и обработки медицинской информации будет способствовать совершенствованию медицинской помощи больным ХСН.

Aim. To present the results of treatment with macitentan of patients included in the clinical trial SERAPHIN in Almazov National Medical Research Centre and define target therapy of pulmonary arterial hypertension (PAH) in real clinical practice.Material and methods. The article presents the results of the 151 patients with PAH followed­up in Almazov National Medical Research Centre from 2009 to 2016.Results. Five­year survival of PAH patients included in the register of Almazov National Medical Research Centre reached 77% for idiopathic PAH, 52% for PAH associated with systemic scleroderma, 81% for PAH associated with non­repaired congenital heart disease, 82% for patients with repaired congenital shunts and 100% for PAH associated with human immunodeficiency virus infection. The group that received PAH specific monotherapy consisted of 47% (n=71) of patients among which phosphodiesterase type 5 inhibitor (PDE­5i) sildenafil was undoubtedly the most prescribed drug — 74% (n=53). The group that received combined PAH specific therapy consisted of 66 (44%) patients: 48 patients received various two­component therapy, 18 patients — threecomponent therapy with endothelin receptor antagonist in combination with PDE­5i and prostanoids. 11 patients with PAH were included in SERAPHIN study of which 9 patients had been already receiving generic PDE­5i therapy. In macitentan group, a statistically significant increase in the 6­minute walk distance (+50 meters) and a decrease in hemodynamic parameters such as mean right atrial pressure (­2,3 mm Hg) and pulmonary vascular resistance (­445 dyn­sec/cm5) were observed after 6 months. No patient had a clinically significant increase in liver transaminases or a decrease in hemoglobin levels.Conclusion. Improvement of prognosis in PAH patients according to the register of the Centre is connected both with early detection of the disease, thanks to the development of specialized healthcare, and more frequent use of combination therapy. Macitentan proved its long­term efficacy and safety as monotherapy and in combination with PDE­5i.

Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Grant of Russian Foundation for Basic Research Introduction Long existing pressure overload results in left ventricular (LV) hypertrophy in severe aortic stenosis (AS). Post-TAVI left ventricular remodeling after relief of the high-pressure overload could lead to manifestation of postprocedural midventricular obstruction caused mostly by marked LV wall hypertrophy with the interposition of the hypertrophic papillary muscle in small LV chamber.  Our aim was to evaluate the incidence and predictors of midventricular obstruction during 1-year follow-up in patients with AS who underwent transcatheter aortic valve implantation.  Methods  30 consecutive patients (mean age: 82.3 ± 5.6 years) with symptomatic severe AS who underwent TAVI in 2018-2019 in Almazov centre and survived >12 months were enrolled in our observational, prospective, single-center study. Evolut R and Sapien-XT valves were used. All patients underwent transthoracic echocardiography before TAVI and at 3, 6, and 12 months after the procedure. There were no patients with baseline midventricular obstruction or concomitant hypertrophic obstructive cardiomyopathy.  Results Procedure was successful in all cases. During 1 year of follow-up after TAVI, 3 patients (10%) demonstrated postprocedural midventricular obstruction with peak gradient ­– 36,3 ± 24,3 mm Hg.   There was no difference in prosthetic diameter between obstructive and non-obstructive patients (27.0 ± 3,4 vs. 27.7 ± 5,1 mm, p = 0.85 - nonparametric Mann-Whitney U test for all comparisons). At baseline echocardiography, patients with midventricular obstruction had a significantly thicker interventricular septum (14.7 ± 2.5 vs. 11.5 ± 1.6mm, p < 0.05), higher LV mass index (170.3 ± 63.6 vs. 121.0 ± 39.5 g/m2, p < 0.05) and relative wall thickness (0.59 ± 0.03 vs. 0.49 ± 0.05 mm, p < 0.02) compared with non-obstructive patients.  Reductions in LV mass index were more significant in non-obstructive patients (49.8 ± 27.3 vs. 15.3 ± 15.0 g/m2, p < 0.04); however, obstructive patients demonstrated higher reductions in end-systolic diameter (8.7 ± 7.1 vs. 0.3 ± 3.9 mm, p < 0.05) and volume (21.7 ± 20.0 vs. 1.2 ± 8.4 mm, p < 0.01) than non-obstructive patients throughout the 1-year follow-up.  Midventricular obstruction peak gradient correlates strongly with preoperative relative wall thickness (rs=.73; p < 0.001), moderate negatively with end-systolic LV diameter (rs=-.45; p < 0.05).  In the multiple regression analyses, preoperative relative wall thickness (p < 0.001), reductions in interventricular septum (p < 0.05) and posterior wall (p < 0.05) thickness were identified as risk factors of postprocedural midventricular obstruction.  Conclusions  10% of patients during 1 year of follow-up after TAVI demonstrate midventricular obstruction of various severity with poor reverse LV remodeling. Patients with a small hypertrophic left ventricle and high preoperative relative wall thickness, are at greater risk of development of the postprocedural midventricular obstruction.

Aim. To analyze the condition of the cardiovascular system in oncological patients receiving immune antitumor therapy with immune checkpoint inhibitors (CPIs) based on results of laboratory and instrumental examinations during a 3-month follow-up.Material and methods. This multicenter prospective observational study included 49 patients (25 men and 24 women aged 65.6±8.7 and 64.3±9.6 years, respectively). A laboratory screening (C-reactive proteins, troponin I, N-terminal pro-brain natriuretic peptide), EchoCG, and carotid ultrasound were performed for all patients. 27 patients were followed up at 3 months after the antitumor therapy initiation. Statistical analysis was performed with the StatPlus 8.0.3 software.Results. Incidence of cardiovascular complications was 16.3 %. The following significant changes in EchoCG parameters were observed: LV EF; (p=0.017), increased LV end-systolic volume (ESV) (р=0.023), and increased LV index of myocardial performance (LIMP; р=0.016). The degree of changes in ESV (ΔESV) depended on a history of chronic heart failure (р=0.03), whereas the degree of changes in EF (ΔEF) depended on the patient’s age at the initiation of antitumor therapy (р=0.006). Ultrasound showed an increase in maximum carotid stenosis (р=0.018).Conclusion. The study showed a high incidence of newly developed cardiovascular complications associated with the CPI treatment as well as the presence of changes in EchoCG parameters and data of carotid ultrasound.

Background/Introduction Women with mechanical prosthetic heart valves are at greatest risk of developing complications.The main reason is that mechanical prosthetic heart valves require lifelong anticoagulation to reduce the high risk of associated thrombotic and hemorrhagic complications. Purpose The main goal of this study was to estimated risk factors and frequency of thrombotic and hemorrhagic complications during pregnancy, delivery and the postpartum period in women with prosthetic heart valves Methods According to retrospective cohort analyses in this study were included 70 patients with prosthetic heart valves who delivered in a specialized perinatal center from October 2010 to February 2020. All the patients were divided into two groups depending on prosthesis type: mechanical prostheses (44 deliveries in 44 patients), biological prostheses (22 deliveries in 19 patients). All patients were performed ECHO (Vivid 7, GE, USA). The average age were 30.7±5.2 years. The N-terminal brain natriuretic propeptide (NT-proBNP) concentration was determined by the quantitative electrochemiluminescence method using a Cobas E 411 analyzer (Roche, Switzerland). The activity of the anti –Xa factor was measured by chromogenic assays. Results In 9 (21.4%) pregnants with a mechanical valve prosthesis (MVP), prosthetic thrombosis was recorded until 2016. In 1 patient with mechanical valve prosthesis (2%) during pregnancy was complicated by an acute cerebral circulation disorder. Since 2016 there were monitored the activity of the anti –Xa factor. In 7 patients on the background of a change in anticoagulant therapy, pregnancy stopped in the early stages. Before pregnancy, 31.4% of the patients didn't have heart failure clinical manifestations, but in 12 (17.1%) patients during pregnancy had increase in NYHA Class maximum to NYHA Class III. The average NT-proBNP concentration was 912.3±1586.6 pg / ml. The frequency of the cesarean section in both groups was high: in patients with mechanical valve prosthesis in 78.5% and in the group of patients with biological valve prostheses in 68.1% of cases. There were not registered any new cases of prosthetic thrombosis after delivery, however, 9 patients had hemorrhagic complications in the early postpartum period, which required relaparotomy and blood transfusions. Regardless of frequent complications during pregnancy and in the postpartum period, no fatal outcomes have been reported. Conclusion The absence of mortality over the 9-years old observation and delivery in patients with valvular prostheses demonstrates the feasibility of monitoring and delivery of this category of patients in a specialized multidisciplinary medical center with experience in managing patients during pregnancy with valvular prostheses on anticoagulant therapy. FUNDunding Acknowledgement Type of funding sources: None.