Diagnostics of Fabry disease in arrhythmology practice: a case report

Heart failure in Fabry disease (FD) is unfavorable prognostic manifestation and cause of death. Given that the disease is rare in clinical practice, the low awareness of physicians about this pathology leads to its late diagnosis and the lack of pathogenetic therapy.Aim. To present a clinical picture of the cardiovascular phenotype in FD in order to increase the awareness of doctors about this disease.Material and methods. In this clinical case, an asymptomatic FD course up to 46 years of age and mani festation in the form of arrhythmia were observed. According to echo car dio graphy, severe left ventricular hypertrophy (myocardial mass index, 214 g/m2) without signs of left ventricular (LV) outflow tract obstruction and left atrial (LA) dilatation were revealed (LA volume index — 47 ml/m2). Right ventricular (RV) and LV systolic function was assessed using two-dimensional speckletracking strain echocardiography. Latent subclinical RV and LV systolic dysfunction was established.Results.  Tandem mass spectrometry revealed a sharp decrease in alphagalactosidase activity of 0,03 umol/L/h (norm range, 0,80-15,00 umol/L/h), as well as an in creased Lyso-GB3 concentration of 95,18 ng/ml (normal range, 0,05-3,0 ng/ ml). A molecular genetic study of blood samples was carried out. By direct automatic sequencing of the GLA gene, a variant of the c.1229 C>T nucleotide sequence was identified, leading to the replacement of p.Thr4101le in the hemizygous state.Conclusion. This case shows the possibility and expediency of diagnosing FD in cardiology practice in patients with LV myocardial hypertrophy of unclear etiology, while atypical variants can be diagnosed only by molecular genetic testing

Antithrombotic Therapy in Patients with Paroxysmal Atrial Fibrillation after Catheter Treatment

Aim. To study the efficacy and safety of antithrombotic therapy in patients with paroxysmal atrial fibrillation (AF) after catheter treatment during 36 months of follow-up.Material and methods. The retrospective observational study included 592 patients (283 men) who underwent catheter treatment of AF, aged 26 to 86 years (median age was 61.0 [55; 67]) with paroxysmal AF, treated in cardiac arrhythmias department of the Institute of Cardiology of Tomsk National Research Medical Center from 01.01.2017 to 31.12.2019. All patients were retrospectively divided into 2 groups: the first group consisted of patients with effective AF ablation, the second - with ineffective AF ablation. During follow-up after 12, 24 and 36 months, patients' complaints, documented arrhythmia recurrences, adherence to the prescribed treatment, and adverse clinical events were taken into account.Results. In patients with paroxysmal AF, the effectiveness of catheter treatment was 73.1% after 12 months of follow-up, 69.3% – after 24 months, 71.6% – after 36 months. The analysis of our data showed that during the follow-up period of 36 months, the incidence of ischemic stroke against the background of anticoagulant therapy and effective catheter treatment of paroxysmal AF was significantly lower than in patients with unsuccessful ablation (0.3% (n=1) and 3.7% (n=4), respectively), even despite the fact that not all patients from the first group received prescribed medication.Conclusion. The use of anticoagulant therapy in patients with paroxysmal AF after interventional treatment is safe, since the invasive strategy in combination with anticoagulant therapy does not increase the risk of major and minor bleeding, and in the case of effective intervention allows statistically significantly reduce the risk of ischemic stroke and almost completely eliminate the likelihood of other thromboemolic complications

СЦИНТИГРАФИЯ МИОКАРДА С 123I-МЕТАЙОДБЕНЗИЛГУАНИДИНОМ В ОЦЕНКЕ СИМПАТИЧЕСКОЙ ИННЕРВАЦИИ МИОКАРДА ЛЕВОГО ЖЕЛУДОЧКА У БОЛЬНЫХ ИШЕМИЧЕСКОЙ БОЛЕЗНЬЮ СЕРДЦА С ФИБРИЛЛЯЦИЕЙ ПРЕДСЕРДИЙ

The aim of this study was assessment of cardiac sympathetic activity in patients with atrial fibrillation by planar scintigraphy with 123I-metaIodbenzilguanidine (123I-MIBG).Material and Methods. The study included 28 (average age (57.4 ± 11.6) years) patients with suspected coronary artery disease. All patients to divide 3 groups: 13 patients (group 1) with paroxysmal AF (PAF),6 patients (group 2) with long-standing persistent AF (LSPAF) and 10 patients with no signs of AF (group 3).Planar imaging was performed to study initial (imaging started 20 minutes after MIBG injection 148 MBq 123I-MIBG) and delayed (imaging started 4 hours after 123I-MIBG injection). For the anterior planar 123I-MIBG images, regions of interest were constructed for the heart and upper mediastinum, and the heart-mediastinal ratio (HMR).Results. The delayed HMR in patients with PAF and LSPAF was significantly lower compared that in patients third group (1.59 ± 0.16, 1.54 ± 0.17 and 1.82 ± 0.11 respectively, p < 0.05). The washout rate of 123I-MIBG in patients with PAF and LSPAF was significantly highest compared that in patients with no signs of AF (33.4 ± 17.5, 29 ± 11.7 and 17.2 ± 9.6 respectively, p < 0.05). In assessment of regional sympathetic activity in patients with LSPAF defect accumulation 123I-MIBG in both the early and delayed scintigrams was significantly higher compared with groups of patients with PAF and without AF.Results of this study indicated, that the patients with atrial fibrillation has of regional LV myocardial changes, according with 123I-MIBG imaging. More sympathetic innervation abnormality was observed in patients with long-standing persistent AF.С помощью сцинтиграфии с 123I-метайодбензилгуанидином (123I-МЙБГ) оценивали состояние симпатической иннервации миокарда левого желудочка (ЛЖ) у больных с фибрилляцией предсердий (ФП).Материал и методы. В исследование были включены 28 пациентов с диагнозом «стенокардия, ишемическая болезнь сердца I–II функционального класса», из них 12 больных с пароксизмальной формой ФП (ПФП), 6 больных с длительно персистирующей формой ФП (ДПФП) и 10 пациентов без признаков ФП. По данным планарной сцинтиграфии миокарда оценивали общую симпатическую активность по соотношению «сердце/средостение» (С/Ср) и скорости вымывания индикатора. По данным эмиссионной томографии оценивали регионарную симпатическую активность.Результаты. Анализ результатов показал, что у пациентов с ПФП и ДПФП значение соотношения С/Ср как на ранних, так и на отсроченных сцинтиграммах было достоверно ниже по сравнению с аналогичным показателем у больных без признаков ФП (1,59 ± 0,16; 1,54 ± 0,17 против 1,82 ± 0,11 на ранних сцинтиграммах и 1,49 ± 0,19; 1,46 ± 0,18 против 1,83 ± 0,13 на отсроченных сцинтиграммах соответственно, p < 0,05). Также у пациентов с ПФП и ДПФП была достоверно выше скорость вымывания индикатора по сравнению с группой пациентов без ФП (33,4 ± 17,5; 29 ± 11,7 против 17,2 ± 9,6 соответственно, p < 0,05). При оценке регионарной симпатической активности у пациентов с ДПФП дефект накопления 123I-МЙБГ как на ранних, так и на отсроченных сцинтиграммах был достоверно больше по сравнению с группами больных с ПФП и без ФП.Вывод. У пациентов с ФП имеют место выраженные изменения функционального состояния симпатической нервной системы миокарда ЛЖ по сравнению с группой пациентов без ФП. Наиболее значимые нарушения регионарной симпатической активности наблюдаются у пациентов с ДПФП

ЦИТОМЕГАЛОВИРУСНАЯ ИНФЕКЦИЯ У РЕБЕНКА СО СПИНАЛЬНОЙ АМИОТРОФИЕЙ

This article describes a clinical case, representing the diagnostic difficulties. The baby of 4 months with bright neurological symptoms that appeared after vaccination, and coming with a diagnosis of "post-vaccination complications" in the survey diagnosed active cytomegalovirus infection and spinal muscular atrophy type 1. The role of the infective matter within the underlying disease was analyzed. В статье описан клинический случай, представлявший диагностические трудности. У ребенка 4-х месяцев с яркой неврологической симптоматикой, появившейся после проведения вакцинации, и поступавшего с диагнозом «поствакцинальное осложнение», в процессе обследования диагностирована активная цитомегаловирусная инфекция и спинальная амиотрофия 1 типа. Проанализирована роль инфекционного агента в течении основного заболевания.

Peculiarities of the influenza viruses circulation and their properties during 2018-2019 epidemic season in Russia and countries of the Northern Hemisphere

Objective. To identify the drift variability of influenza viruses during the period of epidemic rise in the incidence of acute respiratory viral infections in the period 2018-2019. The biological and molecular-genetic properties of epidemic strains isolated in certain territories of the Russian Federation were studied and compared with data from the countries of the Northern Hemisphere. Materials and methods. A range of laboratory diagnostic methods has been applied, including immune fluorescence, RT-PCR, sequencing, methods for determining sensitivity to influenza drugs and receptor specificity. Results and discussion. The proportion of influenza viruses was as follows: A (H1N1) pdm09 - 53 %, A (H3N2) - 46 %, B - about 1 %. Cases of severe acute respiratory infections have most often been associated with influenza A(H1N1) pdm09 virus. According to antigenic properties, isolated strains corresponded to the properties of vaccine viruses (A/Michigan/45/2015 - by 99.6 % and A/Singapore INFIMH-16-0019/2016 - by 86 %). The heterogeneity of influenza A virus strains population was revealed as regards individual mutations in hemaglutinin. The influenza B virus population was equally represented by both evolutionary lines (B/Victoria and B/Yamagata-like). Receptor specificity was favorable for the course and outcome of the disease. Among 70 studied epidemic strains, no strains resistant to anti-neuraminidase drugs, oseltamivir and zanamivir, were detected. The article presents WHO recommendations on the composition of influenza vaccines for the countries of the Northern Hemisphere for 2019-2020, provides data on cases of human infection with avian influenza viruses A(H5N1), A(H5N6), A(H7N9) and A(H9N2)

Грипп-2016: клинико-эпидемиологические особенности и современные возможности эффективной терапии (по данным ГБУЗ города Москвы «Инфекционная клиническая больница № 1 Департамента здравоохранения города Москвы»)

The aim of this study was to monitor in-hospital influenza virus infection during 2015 – 2016 epidemic flu season. Methods. Influenza virus was searched in patients hospitalized to a clinical infectious diseases hospital with acute respiratory viral infection during 2015 – 2016 influenza seasonal growth period using real-time RT-PCR method. Influenza virus was isolated from nasal swabs and autopsy material using canine kidney cell line. Other laboratory methods used included complete blood count, blood chemistry, blood gas analysis, urinalysis, and chest X-ray examination. Results. We examined 1,491 patients (375 adults, 546 children, 570 pregnant women with early gestational age). The proportion of hospitalized patients with confirmed A / H1N1pdm09 influenza in January – February, 2016, was 91.3%. A / H3N2 influenza virus was diagnosed in 5.7%, influenza B virus was isolated in 1.2% of patients. Totally, influenza virus was detected in 35.2% of samples, of which 30.1% of samples were obtained from adults, 33.7% of samples were obtained from children, and 39.8% of samples were obtained from pregnant women. The prevalent patient’s age was 15 to 60 years (76.1%) in adults and 3 to 6 years in children. Moderate course of influenza with a high rate of hospital admission was seen more often and was similar to that of 2009 – 2010 epidemic season. Proportion of patients with flu complicated by pneumonia was higher than that in 2014 – 2015 epidemic season. Bilateral lung injury was diagnosed in 48.4% of patients. High mortality in ICU (46.4%) was due to delayed start of antiviral treatment and late admission to a hospital. Conclusion. In 2015 – 2016 epidemic flu season, higher morbidity, complications and poor outcomes were related to predominant infection of A – H1N1pdm09 influenza virus. Risk factors of complications and death were delayed care seeking, lack of modern antiviral medications and comorbidity.Актуальность. В период подъема заболеваемости в сезоне 2015–2016 гг. в рамках эпидемиологического надзора за циркуляцией вирусов гриппа в Российской Федерации Центром экологии и эпидемиологии гриппа (ЦЭЭГ) Института вирусологии им. Д.И.Ивановского ФГБУ «Федеральный научно-исследовательский центр эпидемиологии и микробиологии имени почетного академика Н.Ф.Гамалеи» Минздрава России (Москва) на базе ГБУЗ города Москвы «Инфекционная клиническая больница № 1 Департамента здравоохранения города Москвы» (ГБУЗ г. Москвы «ИКБ № 1 ДЗМ») осуществлялся госпитальный мониторинг в условиях специализированного стационара, целью которого являлось определение количественного и качественного распределения штаммов вирусов гриппа А и В среди госпитализированных пациентов, в т. ч. с тяжелой формой заболевания, а также анализ частоты осложнений и эффективности противовирусной терапии. Материалы и методы. В период подъема заболеваемости гриппом в ГБУЗ г. Москвы «ИКБ № 1 ДЗМ» госпитализированы пациенты с клиническим диагнозом острая респираторная вирусная инфекция. Детекция вирусов гриппа проводилась методом полимеразной цепной реакции с обратной транскрипцией в режиме реального времени. Вирусы гриппа были изолированы из назальных смывов и секционного материала на перевиваемой клеточной линии почки собаки (MDCK). Лабораторная диагностика включала клинический и биохимический анализ крови, анализ газового состава крови, анализ мочи, рентгенологическое исследование органов грудной клетки. Результаты. В январе-феврале 2016 г. доля больных, госпитализированных в ГБУЗ г. Москвы «ИКБ № 1 ДЗМ» с лабораторно подтвержденным гриппом A / H1N1pdm09, составила 91,3 %, A / H3N2 – 5,7 %, В – 1,2 %. Обследованы пациенты (n = 1 491) – взрослые (n = 375), дети (n = 546) и беременные (n = 570) на разных сроках. Доля положительных на грипп проб в целом составила 35,2 %. Среди взрослых положительными на грипп были 30,1 % проб, среди детей – 33,7 %, среди беременных – 39,8 %. В возрастной структуре преобладали (76,1 %) пациенты в возрасте от 15 до 50 лет. В детской популяции наиболее вовлеченными в эпидемию оказались дети в возрасте 3–6 лет. Преобладали среднетяжелые формы гриппа с высокой частотой госпитализаций, сравнимой с сезоном 2009–2010 гг. Доля пациентов с гриппом, осложненным пневмонией, увеличилась в сравнении с эпидемическим сезоном 2014–2015 гг. Двустороннее поражение легких зарегистрировано у 48,4 % больных. Высокий уровень летальности (46,4 %) в отделении реанимации и интенсивной терапии связан с запоздалым началом противовирусной терапии и поздней госпитализацией. Заключение. Высокая заболеваемость, увеличение числа осложнений и неблагоприятных исходов определена доминированием вируса гриппа A / H1N1pdm09. Факторами, увеличивающими риск развития осложнений и летальных исходов, являются позднее обращение за медицинской помощью, отсутствие своевременной противовирусной терапии, сопутствующие заболевания

The Prognostic Value of the Results of ¹²³I-metaiodobenzylguanidine Myocardial Scintigraphy in the Examination of Patients with Atrial Fibrillation Referred for Its Interventional Treatment

Objective. To identify the scintigraphic predictors of the efficiency of interventional treatment for atrial fibrillation (AF) by cardiac 123I-metaiodobenzylguanidine (123I-MIBG) radionuclide scanning.Material and methods. The investigation enrolled 35 patients with AF concurrent with hypertensive disease (HD): 17 persons with persistent AF (PAF) and 18 patients with long-standing PAF (LPAF). In addition, 10 patients with HD without arrhythmia signs were examined as a comparison group. All the patients with AF before radiofrequency ablation (RFA) and those with sinus rhythm underwent 123I-MIBG myocardial scintigraphy to assess the sympathetic innervation of the heart. The efficiency of RFA was evaluated after 12 months by 24-hour ECG monitoring.Results. The patients of both groups were divided into subgroups according to the presence of recurrent arrhythmia one year after interventional treatment. ROC analysis could determine the main scintigraphic predictors of the efficiency of RFA. The preoperative indicators, in which the subgroups with and without recurrent AF showed significant differences, were studied. In the patients with PAF, the delayed Heart/ Mediastinum (H/M) ratio cutoff was ≥1.55 (the area under the ROC curve was 0.929; 100% sensitivity and 57% specificity), and the threshold value of 123I-MIBG washout rate was ≤22.3% (the area under ROC curve was 0.957; 100% sensitivity and 43% specificity) may suggest that RFA is effective. In the patients with LPAF, the threshold values of early H/M ratio were ≥1.69 (the area under the ROC curve was 0.849; 100% sensitivity and 62% specificity) and those of delayed H/M ratio were ≥1.66 (the area under the ROC curve was 0.938; 94% sensitivity and 23% specificity) allow the prediction of a risk for postoperative recurrent AF.Conclusion. The findings suggest that 123I-MIBG scintigraphy can be used to predict a high risk for recurrent AF after RFA of the pathological pathways of a pulse in the myocardium

Antiaggregant influence on platelet aggregation in patients with acute coronary syndrome without ST segment elevation

Aim. To study antiaggregant therapy effects in patients with instable angina (UA) and non-Q wave myocardial infarction (non-Q MI). Material and methods. This randomized, open, comparative study included 78 patients with Class IIID UA and non-Q MI. Group I (n=17) did not receive any antiaggregants; Group II (n=26) was administered aspirin (250 mg/d at admission, then 125 mg/d); Group III (n=17) received cardiomagnil (150 mg/d, then 75 mg/d); Group IV (n=11) was treated with clopidogrel (75 mg/d) and cardiomagnil (75 mg/d) combination. ADP and adrenalininduced platelet aggregation (PA) was measured with a laser platelet aggregation analyzer 230-LA. All participants received subcutaneous fraxiparin (86 IU/kg every 12 hours). Results. In Group I, hyperPA was observed. In Group II, 6 patients out of 26 demonstrated aspirin resistance. In aspirin-sensitive participants, ADP-induced PA decreased only slightly, and adrenalin-induced PA was significantly suppressed. In Group III, all 17 patients were aspirin-sensitive. PA parameters were similar to those in Group II (effective treatment). Clopidogrel significantly reduced ADP-induced PA only. Clopidogrel and cardiomagnil combination was the most effective option: ADP and adrenaline-induced PA was halved, compared to control parameters. Conclusion. In ACS syndrome patients without ST elevation, antiaggregant therapy control by platelet function monitoring provides an opportunity for choosing the most effective, individualized treatment. Comparative antiaggregant effectiveness was measured during fraxiparin therapy

Assessment of the effect of cardiac rhythm and conduction disorders on the course and outcome of pregnancy: data of the Arrhythmia Center

Aim. To assess the effect of cardiac rhythm and conduction disorders on the course and outcome of pregnancy against the background of treatment.Material and methods. We analyzed 44 case histories of pregnant women examined in the department of surgical treatment of severe cardiac rhythm and conduction disorders during the period from 2012 to 2017 The patients’ age averaged 31,2±5,04 years. The survey was conducted during pregnancy from 12 to 37 weeks (average 28,0±6,4).Results. In most cases, rhythm disorders had idiopathic nature (57%), and in the remaining patients, diseases of the cardiovascular system were verified. Rhythm disorders before pregnancy were reported in 33 (75%) women. In two cases, ventricular tachycardia was hemodynamically significant. Therefore radiofrequency ablation was performed on 26 and 27 weeks of pregnancy. Radiofrequency ablation of supraventricular tachycardia was performed in three patients at the 27th, 29th and 31st week of pregnancy. One patient had an implanted pacemaker due to an atrioventricular block.Conclusion. Rhythm disorders observed in the patients did not require termination of the pregnancy. Antiarrhythmic therapy, prescribed for symptomatic, hemody-namically significant and life-threatening disorders, and surgical treatment made it possible to effectively manage pregnant women before delivery. Most patients had delivery on time, rhythm disorders in labor were not observed. Newborns had high Apgar scores

SCINTIGRAPHIC ESTIMATION OF THE SYMPATHETIC INNERVATION OF THE HEART AND MYOCARDIAL PERFUSION IN PATIENTS WITH ATRIAL FIBRILLATION

Aim. The aim of the study was to scintigraphically evaluate the condition of sympathetic innervation of myocardium and coronary microcirculation in patients with atrial fibrillation (AF).Material and methods. Totally 40 patients included with CHD II-III functional class and AH III stage. Of those: 15 patients — with paroxysmal AF (PAF), 15 — with long-lasting persistent AF (LPAF) and 10 patients — without any signs of AF. To evaluate the sympathetic activity of the myocardium all patients underwent scintigraphy with 123I-metaiodbenzylguanidine (123I-MIBG). With planary study of myocardium investigation with 123I-MIBG we assessed regionary sympathetic activity by the relation of “Heart/ Mediastinum” (H/M) and speed of indicator washout. Also all participants underwent myocardial scintigraphy with 99mTc-MIBG to measure coronary microcirculation.Results. Analysis of the data showed that patients with PAF and LPAF the relation of H/M at early and delayed scintigrammes was significantly lower comparing to the same value in the patients without AF (1,57±0,15, 1,54±0,18 vs. 1,82±0,12 on early scintigrammes and 1,47±0,15, 1,46±0,16 vs. 1,83±0,13 on delayed, with p<0,05). Also in PAF and LPAF was significantly higher the velocity of indicator excretion comparing to the group of patients without AF (31,2%±11,5%, 29,4%±10,5% vs. 17,5%±10,3%, resp., p<0,05). By the evaluation of regional sympathetic activity in patients with LPAF the filling defect of 123I-MIBG on early and delayed scintigrammes was significantly higher than in groups with PAF and without AF. In evaluation of coronary microcirculation there were no any significant differences of the perfusion defect among the groups studied.Conclusion. The study showed that in patients with AF there are the most prominent changes in functional conditions of myocardial sympathetic system comparing to the group without AF. At the same time AF does not lead to significant influence on myocardial flow, and the most significant disorders of regional sympathetic activity are visible in patients with long persistent AF