Репозиторий Университета

© 2020 Purpose: to study the effect of immunosupressive therapy (IST) in the virus-negative and virus-positive patients with immune-mediated myocarditis. Methods: in 60 patients (45 male, 46.7 ± 11.8 years, mean LV EDD, 6.7 ± 0.7 cm, EF 26.2 ± 9.1%) active/borderline myocarditis was verified by endomyocardial biopsy (n = 38), intraoperative biopsy (n = 10), examination of explanted heart (n = 3) and autopsy (n = 9). Indications for IST determined based on histological, immune activity. The follow-up was 19.0 [7.25; 40.25] months. Results: The viral genome in the myocardium was detected in 32 patients (V+ group), incl. parvovirus B19 in 23. The anti-heart antibody level was equally high in the V+ and V- patients. Antiviral therapy was administered in 24 patients. IST (in 22 V+ and 24 V- patients) include steroids (n = 40), hydroxychloroquine (n = 20), azathioprine (n = 21). The significant decrease of LV EDD (6.7 ± 0.7 to 6.4 ± 0.8), PAP (48.9 ± 15.5 to 39.4 ± 11.5 mm Hg, р<0,01), increase of EF (26.5 ± 0.9 to 36.0 ± 10.8), and lower lethality (23.9% and 64.3%; RR 0.37, 95% CI 0.19–0.71), p<0.01, were found only in IST group. Significant improvement due to IST were achieved not only in V-, but also in V+ patients. Conclusions: IST in patients with immune-mediated lymphocytic myocarditis is effective and is associated with lower lethality both in virus-negative and virus-positive patients.

© 2019, The Author(s). Background: Sudden cardiac death (SCD) refers to unanticipated death as a consequence of cardiac failure which takes place over a brief time period (typically within an hour of the commencement of symptoms) in an individual, who may or may not be known to be subject to cardiac disease, but in whom no fatal condition has been diagnosed. The objective of this investigation was to identify the potential cause of SCD in the young population in Moscow. Result: Analysis revealed that the mean age of the deceased amongst men was 24.6 years, and amongst women was 29.1 years. Seventy-six percent of sudden deaths were found to result from some previously undiagnosed pathology of the cardiovascular system, and cardiomyopathy is the most common cause of death in young people. Coronary heart disease is the most common cause of death in people above 40 years old. Conclusion: Investigation to diagnose the causes of SCD constitutes a relevant, comprehensive, and multidisciplinary undertaking, which ought to be founded upon the application of novel and current diagnostic methodologies. An integrated strategy to the quest for the underlying reason for sudden death ought to be founded upon the outcomes of biochemical, anatomical, genetic, pathophysiological, and other investigations. The search and development of objective risk factors will permit timely therapeutic intervention for patients with cardiovascular pathology to minimise and prevent the risk of sudden cardiac death.

© 2018 Schafer, Moore, Dasgupta, Javadov, James, Glukhov, Strauss and Khuchua. Aim: Tafazzin knockdown (TazKD) in mice is widely used to create an experimental model of Barth syndrome (BTHS) that exhibits dilated cardiomyopathy and impaired exercise capacity. Peroxisome proliferator-activated receptors (PPARs) are a group of nuclear receptor proteins that play essential roles as transcription factors in the regulation of carbohydrate, lipid, and protein metabolism. We hypothesized that the activation of PPAR signaling with PPAR agonist bezafibrate (BF) may ameliorate impaired cardiac and skeletal muscle function in TazKD mice. This study examined the effects of BF on cardiac function, exercise capacity, and metabolic status in the heart of TazKD mice. Additionally, we elucidated the impact of PPAR activation on molecular pathways in TazKD hearts. Methods: BF (0.05% w/w) was given to TazKD mice with rodent chow. Cardiac function in wild type-, TazKD-, and BF-treated TazKD mice was evaluated by echocardiography. Exercise capacity was evaluated by exercising mice on the treadmill until exhaustion. The impact of BF on metabolic pathways was evaluated by analyzing the total transcriptome of the heart by RNA sequencing. Results: The uptake of BF during a 4-month period at a clinically relevant dose effectively protected the cardiac left ventricular systolic function in TazKD mice. BF alone did not improve the exercise capacity however, in combination with everyday voluntary running on the running wheel BF significantly ameliorated the impaired exercise capacity in TazKD mice. Analysis of cardiac transcriptome revealed that BF upregulated PPAR downstream target genes involved in a wide spectrum of metabolic (energy and protein) pathways as well as chromatin modification and RNA processing. In addition, the Ostn gene, which encodes the metabolic hormone musclin, is highly induced in TazKD myocardium and human failing hearts, likely as a compensatory response to diminished bioenergetic homeostasis in cardiomyocytes. Conclusion: The PPAR agonist BF at a clinically relevant dose has the therapeutic potential to attenuate cardiac dysfunction, and possibly exercise intolerance in BTHS. The role of musclin in the failing heart should be further investigated.

© 2018, Silicea-Poligraf. All rights reserved. Pregnancy is a physiological condition that takes a defined period of time in a woman’s life. For nine months, the mother’s heart works under conditions of daily additional load, which is necessary to ensure placental blood flow. In this regard, structural and functional adaptation of the heart develops in a healthy woman with a normal pregnancy. A pregnant woman with some heart diseases is less likely to adapt. That leads to greater susceptibility to stress resulting in pathological changes of pregnancy. In addition, each pregnancy may develop new heart diseases, which in some cases may be relatively innocent, but in others — fatal. In this regard echocardiography (EchoCG) is a necessary procedure for assessing a woman’s health status that needs before bearing a fetus, during and after pregnancy.

© 2018 GEOTAR Media. All rights reserved. Aim: to value the significance of various predictors of sudden cardiac death (SCD) and clarify the selection criteria for implantation of cardioverter-defibrillators in patients with cardiomyopathies [dilated (DCM), arrhythmogenic right ventricular (ARVC), left ventricular noncompaction (LVNC)]. Material and methods. 220 patients with DCM syndrome were observed, 151 men, average age 47.5±12.5 years [mean left ventricular end-diastolic dimension (LV EDD) 6.5 [6.0, 7.1] cm, LV EF 30.3±10.1%], 50 patients with ARVC (definite diagnosis in 26 patients, probable in 13, possible in 11), 20 men, average age 38.1±14.6 years and 108 patients with a definite diagnosis of LVNC, 63 men, average age 45.4±14.8 years [mean LV ejection fraction (LF EV) 38.4±14.4%, LV EDD 5.9±0.8 cm]. The average follow-up periods were 16 [6, 37], 13.5 [4, 34] and 14 [3, 5, 36.0] months accordingly. The decision to implant the ICD / CRT-D was taken individually. The endpoints of the study were overall mortality, SCD, death + transplantation, appropriate defibrillators shocks and the "shocks + SCD". Results. The overall mortality in DCM, ARVC, and LVNC was 19.1%, 14.0% and 14.8%. It was mainly determined by terminal heart failure; SCD was recorded in 2.7%, 4.0% and 2.8%. Cardioverter-defibrillators were implanted in 66 (30%) patients with DCM (37 ICD, 29 CRT-D, 93.9% as the primary prevention of SCD), in 13 (26%) patients with ARVC (only ICD, primary prevention in 32,1%) and in 33 (30,6%) patients with LVNC (24 ICD, 9 CRTD, primary prevention in 88,1%). The frequency of appropriate shocks was 18.2% (15.0% in the primary prevention group and 50.0% in the secondary group) in patients with DCM syndrome, 69.2% (33.3% and 80.0% %) in ARVC, and 27.2% in LVNC (22.2% and 50.0%). The primary (genetic) nature of DCM (RR 1.58, OR 10.93), stable VT (RR 18, OR 26.5), and unstable VT (RR 1.43), a low QRS voltage (RR 1.75, OR 1.98), absence of LV hypertrophy signs on the ECG (RR 1.37, OR 2.56) were identified as criteria for selection for the implantation of a defibrillators in patients with DCM syndrome. In the patients with ARVC, these were a stable VT/VF and syncope (RR 4.75, OR 19), male sex (RR 1.25, OR 2), the low QRS voltage (RR 2.2, OR 10.5), chronic heart failure (OR 2.4, OR 8.0), the size of RV 2.85 cm (RR 1.55, OR 3.5), LV EDD> 5.5 cm (RR 2.1, OR 16, 7). In patients with LVNC the criteria were a stable VT/ VF, the presence of myocarditis (RR 3.3, OR 6.3), more than 500 PVBs per day (RR 3.3, OR 4.9), the low QRS voltage (RR 1,1, ОR 1,1), the follow up more than one year (RR 1,5, ОR 1,8). EF is not a statistically significant predictor of appropriate defibrillators shocks. Conclusions. In patients with various cardiomyopathies, which are accompanied by a high risk of SCD, the implantation of a cardioverter-defibrillators is an effective method of preventing SCD, including primary prevention. Due to adequate use of cardioverter-defibrillators in patients with DCM, ARVC and LVNC implanted in view of conventional and additional indications established in the study, mortality is determined primarily not by SCD, but terminal heart failure. Isolated myocarditis as the cause of DCM syndrome is not accompanied by a high risk of SCD, but its adherence to genetic cardiomyopathy determines the high risk of SCD.

© 2018 Media Sphera Publishing Group. All rights reserved. The article presents a clinical observation of two patients with generalized sarcoidosis. The woman typical granulomatous changes in the lungs and lymph nodes combined with atrial fibrillation, kidney failure and hereditary thrombophilia, men with atherosclerotic coronary arteries, re-myocardial infarction, cholestasis, tubulointerstitial nephritis. The accession of systemic manifestations was accompanied by increase of level of angiotensin-converting enzyme in the blood serum, morphological examination of lung tissue in both cases there were high histological activity of vasculitis and granulomatous inflammation. Extrapulmonary symptoms regressed when conducting immuno-suppressive therapy. Discusses modern aspects of diagnosis of sarcoidosis in clinical practice.

© 2018, Silicea-Poligraf. All rights reserved. Aim. To study the efficacy of plasmapheresis as the main type of pathogenic treatment or in combination with immunosuppressive therapy in patients with dilated cardiomyopathy (DCMP) and arrhythmias of immune-inflammatory nature. Material and methods. The main group included 20 patients with arrhythmic myocarditis (with premature supraventricular / ventricular contraction >3000/day, n=3/8, atrial fibrillation (AF) n=9) and 14 patients with DCMP syndrome (enddiastolic volume (EDV) left ventricle (LV) 6,3±0,6 cm, ejection fraction (EF) 33,5±8,1%). The inclusion criterion was an increase of at least 2 types of anti-cardiac antibodies titers ≥ twice. Myocarditis is diagnosed using myocardial biopsy, magnetic resonance imaging, multispiral computed tomography, scintigraphy, coronary angiography. We used a course of discrete plasmapheresis. The comparison group included 26 patients with an arrhythmic myocarditis and 19 with DCMP syndrome (EDV 6,6±0,8 cm, EF 32,6±7,3%), which plasmapheresis was not used. Dynamics was assessed at 6 and 12 months. Results. In groups of patients with arrhythmias and DCMP, a significant decrease in anti-cardiac antibodies titers was observed immediately after plasmapheresis and in control studies (p<0,05). In patients with arrhythmias, a health-promoting effect (a decrease in the number of premature contraction and a frequency of atrial fibrillation ≥75%) was observed in 65% of the main group and 58% of the comparison group. Predictor of plasmapheresis efficiency was a titer of specific antinuclear factor ≥1: 40 (sensitivity — 92,3%, specificity — 71,4%, AUC — 0,813, p<0,05). Methylprednisolone was prescribed to 45% of patients in the main group and 73% to patients in the comparison group (p>0,05) at a dose of 8 [4; 16] and 16 [10; 24] mg per day, respectively, p>0,05. In patients with DCMP in the main group, a significant increase in EF (p<0,05) (up to 41,4±8,2% and 46,3±12,7% vs 39,1±13,7% and 37,2±10,7% in the comparison group) and the distance of 6-minute walking test was obtained. A good effect (increase in EF by 10% or more) was noted in 50% of the main group and 32% of the comparison group. The predictor of plasmapheresis efficacy was systolic pressure in the pulmonary artery ≥28,5 mm Hg. (sensitivity — 100%, specificity — 71,4%, AUC — 0,893, p<0,05). In the main group, methylprednisolone was assigned to 43% of patients, in the comparison group — 89%, p<0,05. The average doses of methylprednisolone in the main group were significantly lower than in the comparison group (8 [8; 17,25] vs 16 [13; 28] mg per day, p<0,05). Conclusion. Positive clinical response to plasmapheresis was noted in 65% of patients with arrhythmias and in 50% of patients with DCMP of immune-inflammatory nature. In patients with different types of myocarditis, plasmapheresis increases the efficacy of antiarrhythmic and immunosuppressive therapy.

© 2018, Silicea-Poligraf. All rights reserved. Aim. To evaluate the exact efficacy of the implantable cardioverter-defibrillators (ICD) and combination devices (CRT-D), and to evaluate their influence on the rate of sudden death and overall mortality in patients with the dilation cardiomyopathy syndrome (DCMP), and to clarify the selection criteria for implantation. Material and methods. Totally, 220 DCMP patients investigated: 66 (30%) of them (mean age 48,5±12,8 y. o., 47 males) underwent implantation of ICD (n=37) and CRT-D (n=29), 154 (70%) patients were in comparison group (mean age 47,1±12,4 y. o., 104 males). In 60 patients (93,9%) the devices were implanted for primary prevention of sudden cardiac death (SCD). Follow-up lasted for 16 [6; 37] months. As primary endpoints, the following parameters were used: “death+transplantation”, mortality, SCD, “SCD+shock” and “death+transplantation+proper shocks of the defibrillators”. Results. Mortality in all DCMP patients was 19,1%, “death+transplantation” — 21,4%, SCD — 2,7%. There were no significant differences by these values in patients with both devices (19,7%; 22,7% and 1,5%), ICD (21,6%; 24,3% and 2,7%), CRT-D (17,2%; 20,7; and 0) and patients with no devices (18,8%; 20,8% and 3,2%). Significantly higher rates by “SCD+shocks” (18,2% v 3,2%, p<0,001) and “death+transplantation+shocks” (36,4% vs 20,8%, p<0,05) in patients with the implanted devices witness for real impact of the defibrillators in equality of overall mortality and SCD parameters. Among the patients with implanted devices, the genetic and mixed (genetic and inflammatory) nature of DCMP predominated (62,1 v 35,7%, p<0,001), there was significantly lower EF (26,3±9,2 v 30,7±10,3%, p<0,01), its end value (31,1±11,0 v 39,2±13,5%, p<0,01), significantly higher end diastolic size of the left ventricle (EDS, LV, 6,8±0,8 v 6,5±0,8 cm, p<0,05) and the grade of mitral regurgitation. In patients with the devices, rate of proper shocks was 18,2%. In isolated myocarditis there were no shocks (35,3±9,1% v 26,8±9,3%, p<0,05), EDS significantly lower (6,2±0,6 cm v 6,9±0,9 cm, p<0,01), ECG signs of LV hypertrophy were more rare (16,7% v 56,3%, p<0,05), but more commonly — the low voltage of QRS (33,3% v 10,6%, p=0,53); there were no differences in the rates of cardiotropic drugs prescription. Main predictors of the shocks were genetic origin of DCMP (isolated or with myocarditis, 25/75%, comparing with 20/33% in patients with no shocks, p<0,01, HR 1,58, OR 10,93, sensitivity 94,1%, negative predictive value 99,2%), and sustained (HR 18,0, sensitivity 98,1%) and non-sustained ventricular tachycardia (HR 1,43, sensitivity and negative predictive value 100%), decrease of QRS voltage and absence of the signs of LV hypertrophy on ECG (negative predictive value 92,8% and 95,6%). Conclusion. In DCMP patients, implanting of ICD/CRT-D was performed with acknowledged additional criteria (genetic or mixed DCMP etiology, lower EF and worse response to treatment); due to more effective ICD therapy, the values of mortality, “death+transplantation” and SCD were not higher than in less severe patients with no such devices. Proper shocks developed in patients with significantly higher EF. As an independent SCD risk factor and a criteria for patients selection to defibrillator implantation, genetic origin of DCMP should be used, especially if comorbid with myocarditis. As the predictors for benign outcome — absence of non-sustained ventricular tachycardia, lower QRS voltage, signs of LV hypertrophy on ECG. An algorithm proposed of DCMP patients selection for ICD treatment.

© 2018 Vserossiiskoe Obshchestvo Kardiologov. All rights reserved. Aim. To evaluate the role of N-terminal procollagen type III propeptide (P3NP) as a proposed marker of myocardial fibrosis in type 2 diabetes (DM2) patients. Material and methods. In the study, 2 groups of patients participated: with DM2 and non-DM2 (both n=32). All patients underwent clinical and laboratory assessment, including P3NP, electrocardiography, echocardiography. Statistics was done with Mann-Whitney criteria and Spearman correlation. Results. The level P3NP is significantly higher in DM2 patients (р<0,00001). In DM2 patients, the level of P3NP significantly correlates with increased myocardial mass of the left ventricle (р=0,00026) and myocardial mass index of the left ventricle (р=0,03685). Conclusion. Echo- and electrocardiographic signs characteristic for myocardial fibrosis (mass increase, voltage decline) in DM2 patients are concomitant with the increase of P3NP. Significant correlation of P3NP and the size of myocardium makes it to propose P3NP as one of possible markers of myocardial fibrosis in DM2 persons.

© 2018, Silicea-Poligraf. All rights reserved. Aim. To classify established clinical types of the right ventricle arrhythmogenic dysplasia (RVAD) taken a variety of genetic and inflammatory mechanisms, and to analyze the specifics of differential diagnostics and management of the respective types. Material and methods. Main group consisted of 50 patients with evident (n=26), probable (n=13) and possible (n=11) RVAD diagnosis, mean age 38,1±14,6 y. o., males — 20 (40%), follow up time 13,5 [4; 34] months. Comparison group consisted of 58 patients with some of the RVAD criteria insufficient for evident diagnosis. All patients underwent ECG, Holter ECG 24 hours, EchoCG; in the main group additionally — DNA-diagnostics (n=46), cardiac MRI (n=44), high definition ECG (n=16), endomyocardial biopsy of the RV (n=2), autopsy (n=2). In comparison group, MRI was done in 32 patients, biopsy to 7, and in 1 case — autopsy. Results. Based upon the clinical data and specifics of the disease course, 4 types of established clinical RVAD were selected, that do not tend to overlap: latent arrhythmic (50% patients), manifest arrhythmic (20%), RVAD with predominant biventricular chronic heart failure (CHF, 16%), and RVAD with non-compaction left ventricle myocardium (14%). The development of one or another type is based on genetic factors, as on comorbid myocarditis (in percent in the following, respectively). In diagnostics of the latent arrhythmic type (frequent right ventricle extrasystoly, VE and/or non-sustained right ventricular tachicardia, VT) the key role played female sex, syncopes in anamnesis (16%), family history of sudden death (12%), ECG-criteria and positive results of DNA diagnostics (24%). For manifest arrhythmic type (sustained VT) — sudden death family anamnesis (in 20%), MRI-criteria (enlarged RV with lower EF), ECG-criteria and positive DNA tests (50%). For RVAD with progressing CHF — sustained VT (50%), syncopes (37,5%), predominance of RV failure with its severely reduced EF (25,7±15,0%), major MRI-and ECG-criteria, decreased QRS-voltage and positive DNA test (38%). Comorbidity of RVAD and non-compaction myocardium differ by frequent VE, aggressive VT (57,1%), syncope (42,9%) and CHF with significantly lower than in DCMP EF LV. Mortality rate in I-IV types was, respectively, 0%, 10%, 25%, 14,3%, and relevant shocks in 8 of 13 (61,5%) patients with ICD. Conclusion. It is worthy to use the proposed RVAD classification in clinical practice to define the spectrum of diagnostical and management events and assess the individual patient prognosis.

© Team of authors, 2018. The article describes the clinical case of subacute myocarditis in a child with an outcome in dilated cardiomyopathy, complicated with congestive heart failure. Difficulties in diagnosing the disease that manifested with cardiac arrhythmia are discussed. The main signs suggesting postmiocardic cardiomyopathy included a reduced deflection voltage and frequent ventricular extrasystoles with episodes of the ventricular tachycardia in the onset of the disease, left ventricular dilatation, a significant decrease in ejection fraction, increased activity of natriuretic peptide, findings of perfusion scintigraphy and magnetic resonance imaging. Medical therapy and implantation of a cardioverter defibrillator were ineffective. The child repeatedly suffered from syncopal conditions with circulatory arrest, which required resuscitation. Due to the ineffectiveness of drug therapy conducted in the leading federal centres, considering cardiac transplantation abroad was recommended.

Первичные миодистрофии это гетерогенная группа наследственных нервно-мышечных заболеваний, характеризующихся прогрессирующей слабостью и дегенерацией скелетных мышц. В общей когорте взрослых больных с синдромом дилатационной кардиомиопатии (ДКМП) доля пациентов с первичными миопатиями невелика (в нашем регистре из 220 больных с синдромом ДКМП 3,6%), но они отличаются молодым возрастом и нередко тяжелым прогрессирующим течением заболевания. Генофенотипические корреляции, принципы стратификации риска и ведения таких больных четко не определены, данные об успешной трансплантации сердца у них и ее месте в их лечении немногочисленны. Цель проанализировать особенности течения кардиомиопатии в рамках генетически верифицированных и неуточненных первичных миопатий и роль трансплантации сердца в ее лечении. Материал и методы. В исследование включены 9 больных, 5 мужчин и 4 женщины, средний возраст 31,4+13,8 года (от 16 до 63) с сочетанием кардиомиопатии и скелетной миодистрофии. Обследование пациентов включало общий осмотр, определение уровня КФК в крови, антител к различным антигенам сердца методом непрямого ИФА, ДНК кардиотропных вирусов в крови и миокарде методом ПЦР, ЭхоКГ, суточное мониторирование ЭКГ по Холтеру; дополнительно проведены МСКТ сердца, МРТ, игольчатая электронейромиография, консультация невролога, эндомиокардиальная биопсия правого желудочка, исследование эксплантированного сердца, биопсия скелетной мышцы, аутопсия. Медико-генетическое консультирование было проведено всем больным. Генетическое исследование включало поиск мутаций в 57 генах методами прямого секвенирования по Сенгеру и полупроводникового секвенирования на платформе PGM IonTorrent. Результаты. Мутации в генах LMNA, EMD и DES были выявлены у 7 из 9 пациентов. Симптомы скелетной миопатии в большинстве случаев предшествовали появлению первых проявлений КМП. Практически у всех пациентов первыми симптомами поражения сердца были нарушения ритма и проводимости. У 2/3 больных при ЭхоКГ выявлена развернутая картина ДКМП. Значимое повышение титра антител к различным антигенам сердца выявлено у 5 больных. 3 больных умерли, еще 3 успешно выполнена трансплантация сердца. Живы без трансплантации только 3 женщины, 2 из них имплантированы устройства (электрокардиостимулятор и CRT-D). Обсуждение. Патогенные мутации верифицированы у 77,8% больных в 3 генах: LMNA, EMD и DES; трансплантация сердца успешно выполнена в каждой подгруппе. Присоединение миокардита является несомненным фактором ухудшения прогноза при различных миопатиях. Выводы. Кардиомиопатии в рамках миопатий имеют неуклонно прогрессирующее течение и плохой прогноз. К 9 мес суммарной конечной точки «смерть + трансплантация» достигли 66,7% больных, летальность составила 33,3%. Женский пол оказался благоприятным прогностическим признаком.

Первичные миодистрофии это гетерогенная группа наследственных нервно-мышечных заболеваний, характеризующихся прогрессирующей слабостью и дегенерацией скелетных мышц. В общей когорте взрослых больных с синдромом дилатационной кардиомиопатии (ДКМП) доля пациентов с первичными миопатиями невелика (в нашем регистре из 220 больных с синдромом ДКМП 3,6%), но они отличаются молодым возрастом и нередко тяжелым прогрессирующим течением заболевания. Генофенотипические корреляции, принципы стратификации риска и ведения таких больных четко не определены, данные об успешной трансплантации сердца у них и ее месте в их лечении немногочисленны. Цель проанализировать особенности течения кардиомиопатии в рамках генетически верифицированных и неуточненных первичных миопатий и роль трансплантации сердца в ее лечении. Материал и методы. В исследование включены 9 больных, 5 мужчин и 4 женщины, средний возраст 31,4+13,8 года (от 16 до 63) с сочетанием кардиомиопатии и скелетной миодистрофии. Обследование пациентов включало общий осмотр, определение уровня КФК в крови, антител к различным антигенам сердца методом непрямого ИФА, ДНК кардиотропных вирусов в крови и миокарде методом ПЦР, ЭхоКГ, суточное мониторирование ЭКГ по Холтеру; дополнительно проведены МСКТ сердца, МРТ, игольчатая электронейромиография, консультация невролога, эндомиокардиальная биопсия правого желудочка, исследование эксплантированного сердца, биопсия скелетной мышцы, аутопсия. Медико-генетическое консультирование было проведено всем больным. Генетическое исследование включало поиск мутаций в 57 генах методами прямого секвенирования по Сенгеру и полупроводникового секвенирования на платформе PGM IonTorrent. Результаты. Мутации в генах LMNA, EMD и DES были выявлены у 7 из 9 пациентов. Симптомы скелетной миопатии в большинстве случаев предшествовали появлению первых проявлений КМП. Практически у всех пациентов первыми симптомами поражения сердца были нарушения ритма и проводимости. У 2/3 больных при ЭхоКГ выявлена развернутая картина ДКМП. Значимое повышение титра антител к различным антигенам сердца выявлено у 5 больных. 3 больных умерли, еще 3 успешно выполнена трансплантация сердца. Живы без трансплантации только 3 женщины, 2 из них имплантированы устройства (электрокардиостимулятор и CRT-D). Обсуждение. Патогенные мутации верифицированы у 77,8% больных в 3 генах: LMNA, EMD и DES; трансплантация сердца успешно выполнена в каждой подгруппе. Присоединение миокардита является несомненным фактором ухудшения прогноза при различных миопатиях. Выводы. Кардиомиопатии в рамках миопатий имеют неуклонно прогрессирующее течение и плохой прогноз. К 9 мес суммарной конечной точки «смерть + трансплантация» достигли 66,7% больных, летальность составила 33,3%. Женский пол оказался благоприятным прогностическим признаком.