CONTENTS
СОДЕРЖАНИЕ

RUSSIAN JOURNAL OF CARDIOLOGY, 2016, 10 (138)

Address to the readers

Russ J Cardiol 2016, 10 (138): 5

CLINICAL MEDICINE NEWS

Clinical medicine updates: a review of international news

Russ J Cardiol 2016, 10 (138): 6

ORIGINAL ARTICLES

GENETICS IN CARDIOLOGY

REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION

Rumyantseva V. A., Rogozhina Yu. A., Bukaeva A. A., Bazarov D . V., Charchyan E. R., Zaklyazminskaya E. V.

Abstract

Aim. To invent a complex approach to patients with "marfanoid phenotype" undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling.

Material and methods. In the group of 37 patients with suspected Marfan syndrome we conducted analysis of coding exones and attached enthrones of the gene FBN1 with highly performing sequencing on platform IonTorrent.

Results. After mutation screening in the sequences of gene FBN1, in 25 patients we confirmed the Marfan syndrome, and four of genetic mutation carriers did not have complete Ghent criteria. All genetic variants were analyzed and were applied at the stage of surgery planning for maximum radical result of surgical treatment and for medical genetic counseling of the families.

Conclusion. The analysis performed, of clinical presentation, surgery indications and spectrum of post-operation complications in Marfan syndrome patients.

Russ J Cardiol 2016, 10 (138): 7–14

http://dx.doi.org/10.15829/1560-4071-2016-10-7-14

Key words: Marfan syndrome, aortic aneurysm, infundibular chest deformity, spontaneous pneumothorax, FBN1, DNA-diagnostics.

V. B. Petrovskiy Russian National Research Centre of Surgery, Moscow, Russia.

MUTATION SPECTRUM OF THE GENE KCNQ1 IN RUSSIAN PATIENTS WITH LONG QT SYNDROME

Polyak M. E.¹, Ivanova Е. А.², Polyakov А. V.², Zaklyazminskaya Е. V.^1,3

Abstract. The primary long QT syndrome (LQTS) is hereditary disorder of cardiac rhythm. More than 15 genetic types of the disease known. Most prevalent is the type of the disorder related to potassium channel KvLQT1.

Aim. Analysis of mutation spectrum in the gene KCNQ1, coding α-subunit of potassium channel IKs, collected with specimens of 143 families with LQTS.

Material and methods. Clinical part of the study and LQTS diagnostics included a standard range of personal and family histore, ECG, 24-hour Holter monitoring, EchoCG, long-time passive orthostatic test (tilt-test) if indicated. DNA-diagnostics of mutations in the gene KCNQ1 was performed with the method of direct authomatic sequencing by Sanger.

Results. LQTS, type 1, was verified in 53 families (37%). There were 39 mutations revealed in the gene KCNQ1. Most mutations were found once per family, only 4 mutations repeated in 3 or more non-related families. Most prevalent mutation c.477+1G>A in heterozygous kind presents with milder course of the disease. Second by prevalence mutation replacement p.A341V points on serious prognosis of the disease and might be regarded as genetic factor of SCD. Relative predominance of mutations was found for exones 2, 5, 6, 7, 8 of gene KCNQ1. About 20% of mutations appeared de novo. Two non-related mutations were found in 5 families (3,5%) probands. In all cases the carriers of two mutations the disease had worse course, than in one mutation carriage.

Conclusion. The data on genetic nature of the disease and clinical signs of various mutations in LQTS can be applied for planning of dynamic follow-up and tactics of antiarrhythmic therapy.

Russ J Cardiol 2016, 10 (138): 15–20

http://dx.doi.org/10.15829/1560-4071-2016-10-15-20

Key words: hereditary canalopathies, long QT syndrome, LQTS, KCNQ1, IKs, DNAdiagnostics.

¹V. B. Petrovskiy Russian National Research Centre of Surgery, Moscow; ²Medical Genetics Scientific Center, Moscow; ³N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia.

A CASE OF DNA-DIAGNOSTICS APPLICATION FOR ARRHYTHMOGENIC RIGHT VENTRICLE CARDIOMYOPATHY

Shestak A. G.¹, Blagova O. V.², Lutokhina Yu. A.², Frolova Yu. V.¹, Dzemeshkevich S. L.¹, Zaklyazminskaya E. V.^1,3

Abstract

Aim. Analysis of the results of DNA-diagnostics in practice, for the two most common types of arrhythmogenic cardiomyopathies of the right ventricle (ACRV) in cardiovascular and surgery setting.

Material and methods. Clinical and laboratory study performed, of the selection of 38 patients with a diagnosis at presentation — ACRV, with consequent genetic counseling and DNA-diagnostics for 2 most common types of ACRV.

Results. Mutations in two genes responsible for the most common ACRV types, were found in 22,9% of patients. Analysis of occurrence rate was done for mutations in groups with definite, probable and possible diagnoses of ACRV, and of total impact of genetic data on diagnostics of the disease.

Conclusion. Data obtained on the Russian selection of patients shows similarity with the data on prevalence of two most common genetic forms of ACRV in other ethnicities.

Russ J Cardiol 2016, 10 (138): 21–27

http://dx.doi.org/10.15829/1560-4071-2016-10-21-27

Key words: right ventricle arrhythmogenic cardiomyopathy, medical genetic counseling, cascade family screening.

¹V. B. Petrovskiy Russian National Research Centre of Surgery, Moscow; ²V.N. Vinogradov Faculty Clinics of I. M. Sechenov First Moscow State Medical University of the Ministry of Health, Moscow; ³N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia.

FIRST RUSSIA-BASED STUDY OF POLYMORPHISM rs2200733 CHROMOSOME 4q25 ASSOCIATION WITH DEVELOPMENT OF THE LONE ATRIAL FIBRILLATION

Shulman V. A.¹, Nikulina S. Yu.¹, Aksyutina N. V.¹, Poplavskaya Е. Е.¹, Nazarov B. V.¹, Maksimov V. N.²

Abstract. Atrial fibrillation (AF) is one of the most prevalent tachiarrhythmias, with at date non fully understood etiology. Recently, the attention is paid to genetic determinants of AF.

Aim. To assess the role of rs2200733 polymorhpism on the chromosome 4q25 in development of AF in Russian population.

Material and methods. Totally, 76 patients studied with AF, and control group, number 73 persons without cardiovascular pathology. All participants underwent laboratory and genetic investigations.

Results. A statistically significant prevalence of genotype ТТ is found (21,21% vs 4,11%, р=0,015) and allele Т (34,85% vs 19,86%, р=0,03) in the group of patients with the lone AF comparing to the controls. Therefore, TT genotype and T allele of rs2200733 chromosome 4q25 could be predictors of unknown origin AF development.

Russ J Cardiol 2016, 10 (138): 28–31

http://dx.doi.org/10.15829/1560-4071-2016-10-28-31

Key words: atrial fibrillation, chromosome 4q25, rs2200733.

¹V. F. Voino-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk; ²Scientific-Research Institute of Therapy and Prevention, Novosibirsk, Russia.

THE ROLE OF INTERLEUKIN-6 GENE IN DEVELOPMENT OF IDIOPATHIC SICK SINUS SYNDROME

Nikulina S. Yu.¹, Marilovtseva O. V.¹, Chernova А. А.¹, Tretyakova S. S.¹, Nikulin D. А.¹, Maksimov V. N.²

Abstract

Aim. To study the association of polymorphisms rs1800795 of gene IL-6 with the development of sick sinus node syndrome (SSS).

Material and methods. Totally, 109 patients studied, with idiopathic SSS, and 59 of their healthy relatives of I, II, III grade of relation, and 173 controls. Patients from main group were selected to subgroups according to sex and clinical type of the disease. All patients underwent standard clinical and instrumental cardiological assessment and molecular-genetic test of DNA. Statistics was done with software "Statistica 7.0".

Results. There was significant predominance of homozygous genotype of rare allele of the studied gene in controls (18,5%±3,0) comparing to idiopathic SSS patients (8,5%±3,1), p=0,039, and to subgroup of males with SSS (5,2%±8 among SSS males versus 30,8%±9,1 among controls, р=0,03). Also there was significant predominance of the widespread genotype IL-6 among males with compensated SSS variant (69,2%±12,8) comparing to the controls (23,1%±8,3, р=0,005).

Conclusion. Probably the homozygous genotype GG of gene IL-6 is protective against idiopathic SSS.

Russ J Cardiol 2016, 10 (138): 32–36

http://dx.doi.org/10.15829/1560-4071-2016-10-32-36

Key words: suck sinus syndrome, interleukin-6, genetic polymorphism.

¹V. F. Voino-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk; ²FSBI SRI of Therapy and Prevention Medicine of SD RAMS, Novosibirsk, Russia.

POLYMORPHISM OF THE INTERLEUKIN-6, INTERLEUKIN-10, SUPEROXIDE DISMUTASE AND ANGIOTENSIN CONVERTING ENZYME GENES, AND THE RISK OF ATRIAL FIBRILLATION AFTER CARDIOSURGERY

Rubanenko О. А.^1,2, Fatenkov О. V.¹, Khokhlunov S. М.^1,2, Shavkunov S. А.³

Abstract

Aim. To reveal the relation of gene polymorphisms of interleukin-6 (IL6, C174G), interleukin-10 (IL10, C592A), superoxide dismutase (SOD1, G8958A) and angiotensin converting enzyme (ACE, Alu Ins/Del) with postsurgery atrial fibrillation (PSAF) after coronary bypass grafting (CBG) in coronary heart disease patients (CHD).

Material and methods. Totally, 80 CHD patients studied, had been admitted for CBG. Genotype assessed for IL6 C174G, IL10 C592A, SOD1 G8958A and ACE Alu Ins/Del. According to PSAF, patients were selected to 2 groups: 1 group — non-PSAF (56 patients, 78,6% males, mean age 61,0±7,5 years), 2 group — with PSAF (24 patients, 83,3% males, mean age 64,7±7,9 years).

Results. Analysis of genetic polymorphisms showed the prevalence of СG IL6 C174G (57,2%) genotype, СС IL10 C592A (62,5%), GG SOD1 G8958A (87,5%), I/D ACE Alu Ins/Del (60,8%) among non-arrhythmic patients. In PSAF most prevalent were genotypes СG IL6 C174G (54,2%), СА IL10 C592A (54,2%), GG SOD1 G8958A (79,2%), I/D ACE Alu (58,4%). In multifactor regression analysis, odds ratio for PSAF in allele G IL6 C174G was 1,5 (95% CI, 0,69-3,44, р=0,29), for allele A IL10 C592A — 2,7 (95% CI, 1,2-6,9, р=0,04), for allele A SOD1 G8958A — 2,1 (95% CI, 0,7-6,2, р=0,19), for allele D gene ACE Alu Ins/Del — 0,9 (95% CI, 0,27-3,1, р=0,89).

Conclusion. Therefore, presence of allele A of candidate gene IL10 C592A might force the onset of atrial fibrillation during early postsurgery period in coronary bypass.

Russ J Cardiol 2016, 10 (138): 37–42

http://dx.doi.org/10.15829/1560-4071-2016-10-37-42

Key words: atrial fibrillation, coronary bypass, polymorphism, genes, interleukins, superoxide dismutase, angiotensine converting enzyme.

¹Samara State Medical University of the Ministry of Health, Samara, Russia; ²Samara Region Clinical Dispensary of Cardiology, Samara; ³Municipal Medical Institution of Samara Region Medical-Sanitary Dept. №2, Samara, Russia.

INFLUENCE OF COMBINED CARRIAGE OF LIPID TRANSPORTING SYSTEM GENES POLYMORPHISMS ON THE GRADE OF CORONARY ATHEROSCLEROSIS IN UNSTABLE ANGINA PATIENTS

Eshpulatov A. S., Hoshimov Sh. U., Shek A. B ., Kurbanov R. D .

Abstract

Aim. To study the specifics of lipid metabolism and involvement of coronary flow according to combination carriage of "ε4"-allele ε2ε3ε4 polymorphism of gene apolipoproteine Е (Apo Е) and "S2"-allele SstI polymorphism of gene apolipoproteine СIII (Apo СIII) in unstable angina patients.

Material and methods. Totally, 141 patients assessed, with unstable angina and angiographically proven coronary atherosclerosis. Comparison group — 50 healthy persons. Genotyping of ε2/ε3/ε4 polymorphism gene Apo Е and SstI polymorphism gene Apo СIII was done by PCR.

Results. 37 were selected to one group of patients with the carriage of "harm" alleles: "ε4" and "S2" — (I group), versus the others (II group) — 104 patients. In comparison of lipid profiles, I group showed significantly higher levels of total cholesterol (238,0±54,3 mg/dL) and low density cholesterol (LDL) (154,7±51,5 mg/dL) (Р<0,05), than levels of TC (220,6±39,8) and LDL (138,8±37,6) in II group. Also, in I group patients there was lower HDL cholesterol (34,1±6,3, P<0,05), comparing to II group (36,8±6,8). Level of apolipoproteide В (Apo В) was slightly higher (115,0±24,9 mg/dL), and level of apolipoproteide А-I (Apo А-I) — lower (133,8±21,3) in group I, that led to significantly higher relation of Apo-B/Apo-AI — 0,9±0,3 (P<0,05), comparing to group II (107,0±25,7, 139,1±22,2 and 0,8±0,2), respectively.

Conclusion. Carriage of alleles "S2" SstI polymorphism gene apo CIII and "ε4" ε2ε3ε4 polymorphism gene Apo Е is predetermining factor for development of coronary atherosclerosis and atherogenic dyslipidemia among uzbeks. According to coronary arteriography, in the I group patients had more commonly three — and multivessel disease (Р<0,05).

Russ J Cardiol 2016, 10 (138): 43–47

http://dx.doi.org/10.15829/1560-4071-2016-10-43-47

Key words: genes polymorphism of lipid transportation system, lipids, apolipoproteines, coronary arteriography.

LC Republic Specialized Center of Cardiology of MH RU, Tashkent, Uzbekistan.

PROGNOSTIC SIGNIFICANCE OF MET235/235THR POLYMORPHISMS OF GENE AGT FOR DEVELOPMENT OF CARDIOVASCULAR DISORDERS IN PROFESSIONAL SPORTSMEN

Muzhenya D. V.¹, Tuguz A. R.¹, Ashkanova Т. М.², Pshidatok А. R.², Smolkov I. V.¹, Shumilov D. S.¹

Abstract

Aim. Assessment of Met235Thr polymorphisms of gene AGT, related to cardiovascular diseases (CVD), as early genetic predictors of occupational diseases in professional sportsmen in Adyghea Republic (AR).

Material and methods. Dispersion of Met235/235Thr polymorphic variants of AGT gene studied via SNP-method (single nucleotide polymorphism) with allele-specific primers and electrophoretic detection of results (NPF "Litech"). С704Т polymorphisms of gene AGT (rs699) with replacements of cytosine by thymine at 704 position of gene, and methionine by threonine (Met>Thr) at 235 aminoacid consequence of angiotensine, were typed in the specimens of genomic DNA of professional sportsmen (n=40), donors (n=120) and CVD patients (n=64) aged 23-65 y. o., from two ethnicities — Adyges and Russians. Experimental findings were analized with relevant statistical software (SPSS Statistics 17.0).

Results. Prevalence of 235Thr allele and Thr235Thr genotype of AGT is significantly higher in the group of patients comparing to healthy controls (р=0,05, χ2=5,84; р=0,01, χ2=6,2) and sportsmen (р=0,05, χ2 =6,15; р=0,02, χ2=5,04). High risk of CVD development in carriers of allele 235Thr variant (OR=4,34) as Thr235Thr mutation genotype (OR=3,89), caused by the increase of agiotensine level in blood plasma, confirms its association with the diseases of cardiovascular continuum (DCC) in AR inhabitants. Under conditions of intensive physical exertion the Thr235Thr genotype of qualified sportsmen is an adverse factor leading to cardiovascular pathology.

Conclusion. The new data obtained, on the increased incidence of prognostically adverse Met235/235Thr polymorhpism of the gene AGT for CVD in professional sportsmen, can be applied for early molecular and genetic predictors of cardiovascular disorders at individual level, as for defining of risk groups with further correction of training schedule.

Russ J Cardiol 2016, 10 (138): 48–52

http://dx.doi.org/10.15829/1560-4071-2016-10-48-52

Key words: cardiovascular diseases, sportsmen, early predictors, Met235/235Thr polymorphisms of gene AGT, rs699.

¹FSBEI HPE Adyghea State University, SRI of Complex Problems, Maykop; ²Adyghea Republic Clinical Hospital, Maykop, Adyghea Republic, Russia.

GENERAL WORKS

ASSOCIATION OF GLUCOSE WITH GENERAL AND CARDIOVASCULAR MORTALITY AMONG POPULATION FROM 55 YEARS AND OLDER

Imaeva A. E.¹, Kapustina A. V.¹, Smirnov D. А.¹, Balanova Yu. А.¹, Muromtseva G. А.¹, Deev А. D.¹, Shalnova S. А.¹, Shkolnikova М. А.², Shkolnikov V. М.³

Abstract

Aim. To evaluate association of various blood glucose levels with overall and cardiovascular mortality (CVM) among population 55 y. o. and older.

Material and methods. Current paper represents partially the prospective study "Stress, ageing and health". Totally, 1876 participants at the age 55 years and older included, assessed for traditional RF and presence of definite CHD according to quintile stratification by glucose levels in blood: <5,1 mmol/L, 5,1-5,5 mmol/L, 5,51-5,89 mmol/L, 5,9-6,59 mmol/L, >6,59 mmol/L. Epidemiological diagnosis of definite CHD was set based upon the algoritms and questionnaire by Rose and results of ECG by Minnessota coding. Follow-up lasted in average for 7,05 years. Totally, 411 lethal cases registered, among those 247 — from CVD. Statistics was done with STATA software.

Results. Relative total risk of death after correction by sex, age and diabetes was significantly higher among those with glucose lower than 5,1 mmol/L. Such relations of glucose and total mortality were significant after correction for sex, age, diabetes, CHD and/or traditional risk factors. Also, the most prominent decrease of morality is found in glucose level 5,51-5,89 mmol/L. However, the highest glucose levels are associated with higher mortality, but not significantly. When assessing impact of glucose on CVM, same associations were found, though not so much significant. Significant relation of CVM was found just for glucose level equal to 5,51-5,89 mmol/L.

Conclusion. Association of glucose with overall and CVM in population 55 y. o. and older is L-shaped. The highest overall and CVM is found in persons with glucose <5,1 mmol/L.

Russ J Cardiol 2016, 10 (138): 53–57

http://dx.doi.org/10.15829/1560-4071-2016-10-53-57

Key words: blood glucose, coronary heart disease, traditional risk factors, overall mortality, cardiovascular mortality.

¹National Research Center for Preventive Medicine of the Ministry of Health, Moscow; ²Yu. E. Veltishchev Scientific-Research Clinical Institute of Pediatrics of N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia; ³Max Planck Institute for Demographic Research, Rostock, Germany.

COMPARISON OF EFFECTIVENESS OF COMBINATION ANTIHYPERTENSION THERAPY IN WOMEN WITH ABDOMINAL OR GLUTEO-FEMORAL OBESITY

Skibitsky V. V.¹, Skibitskaya S. V.², Fendrikova A. V.¹, Porodenko N. V.¹

Abstract

Aim. To study the influence of combinational antihypertension therapy including inhibitor of angiotensin converting enzyme (ACEi) or direct renin inhibitor (DRI) on the parameters of 24-hour blood pressure monitoring (ABPM) in postmenopausal women in different obesity patterns.

Material and methods. Totally, 168 women studied with arterial hypertension (AH) in postmenopause: 97 with abdominal obesity (AO) and 71 with gluteofemoral (GFO). Patients were randomized to groups of ACEi therapy and diuretic or DRI and diuretic. Follow-up lasted for 24 weeks.

Results. In 4 weeks of therapy with the usage of maximal ACEi dosages, target level of blood pressure (BP) was reached in 30 from 42 (71,4%) women with AO and 27 from 32 (84,4%) with GFO, and maximum dose of DRI led to target pressure achievement in 37 from 41 (90,2%) women with AO and 30 from 33 (90,9%) with GFO. Others required addition to the therapy a dihydropyridine calcium antagonist. In 6 months of therapy in all groups of patients there was positive dynamics of the main 24-hour profile parameters.

Conclusion. Combination of ACEi or DRI with indapamide retard have significant antihypertension effect in women with AH in AO and GFO. In addition, combination of DRI with diuretic is better than of ACEi that was showed by the prevalence and speed of target BP achievement, more significant dynamics of ABPM parameters and positive changes in patients spread upon physiologic and pathologic types of 24-hour profile in 24-week therapy, especially in AO.

Russ J Cardiol 2016, 10 (138): 58–63

http://dx.doi.org/10.15829/1560-4071-2016-10-58-63

Key words: abdominal and gluteo-femoral obesity, arterial hypertension, postmenopause, direct renin inhibitor, angiotensin converting enzyme inhibitor.

¹Kubansky State Medical University of the Ministry of Health, Krasnodar; ²City clinical hospital of emergency medical aid, Krasnodar, Russia.

SPECIFICS OF SUBFRACTIONAL SPECTRUM OF APOLIPOPROTEIN B RELATED LIPOPROTEINES IN CAROTID OR CORONARY ATHEROSCLEROSIS PATIENTS

Gavrilova N . E., Metelskaya V. A., Ozerova I. N ., Yarovaya E. B ., Boytsov S. A.

Abstract. Apolipoprotein (apo)B-containing lipoproteines of low density are heterogeneous by their nature, and differ by their lipid and protein contents, charge, particle size and functional activity. High blood level of small dense particles of low-density lipoproteines (LDL) is related to higher risk of coronary heart disease 3-5 times irrelevant to cholesterol level they contain.

Aim. To evaluate and describe the specifics of subfraction spectrum of apo-Bcontaining lipoproteines in patients with lesions in carotid and/or coronary circulation.

Material and methods. Totally, 310 patients included (62,5±9,3 year old), underwent duplex scanning of carotid arteries and coronary arteriography (M/F 203/107). Sub fraction spectrum of lipoproteines was assessed with electrophoresis on 3% polyacrylamide gel (Lipoprint system, Quantimetrix Lipoprint LDL System, USA). The level of severity of coronary atherosclerosis lesion was assessed with the Gensini Score (GS).

Results. Evaluation of subfractional spread of lipoproteines according to the results of duplex scan showed that in the group of patients with intima-media thickness (IMT) >0,9 mm part of intermediate density lipoproteides (IDL) C is higher (11,0±3,6 vs 9,1±2,8%, р=0,002), and the part of low density lipoproteides (LDL) 1 is lower (16,7±4,1 vs 18,1±3,7%, р=0,047) comparing to the patients with normal IMT. Assessment of the spread of LDL subfractions according to the number of atherosclerotic plaques (AP) and/or lesion of carotid arteries showed that among the patients with ≥3 AP and/or involved carotid arteries for >45%, the part of LDL C decreased (9,9±3,2 vs 11,4±3,7%, р=0,003), but there is increase of intermediate density lipoproteides A (IDL A) (9,3±2,6 vs 8,4±2,5%, р=0,013) and large particles of IDL 1 (17,8±4,0 vs 16,2±4,0%, р=0,005) and comparing to those having <3 AP and/or in lesion ≤45%. With the grading score GS the groups of patients were selected with absence of coronary atherosclerosis (GS =0, n =68) and presence of coronary atherosclerosis (GS >0, n=242). Coronary patients were selected to subgroups with minimal or mild (GS <35, n =81) and severe lesion of coronary arteries (GS ≥35, n=161). In the group of GS >0 part of very low density lipoproteins (VLDL) (21,0±4,1 vs 19,3±4,1%, р=0,004) and IDL (11,4±3,4 vs 10,5±3,3%, р=0,047) were higher, and part of IDL A (8,4±2,5 vs 9,4±2,6%, р=0,006) and large particles IDL 1 (16,8±4,2 vs 18,2±4,2%, р=0,013) lower than group GS =0. In the group GS ≥35 the part of IDL C was significantly higher comparing to those from GS <35 (11,8±3,7 vs 10,8±3,0%, р=0,008). According to multifactor regression, the risk of coronary atherosclerosis is related to higher part of VLDL (OR =1,1, 95% CI 1,0- 1,2, р=0,039), small dense particles of LDL 3-6 (OR =1,3, 95% CI 1,0-1,6, р=0,049), and higher part of LDL 2 is associated with the risk of coronary atherosclerosis by 10% GS score (OR =0,9, 95% CI 0,8-1,0, р=0,014).

Conclusion. Combination of carotid and coronary arteries is related to the changes of subfractional lipoproteides spectrum (lower part of IDL A and large particles of LDL 1 and higher part of VLDL), characteristic for isolated lesion of coronary arteries regardless its prominence, which probably might be regarded as additional markers of atherogenity of lipid profile in earlier stage carotid and any coronary atherosclerosis.

Russ J Cardiol 2016, 10 (138): 64–70

http://dx.doi.org/10.15829/1560-4071-2016-10-64-70

Key words: carotid atherosclerosis, coronary atherosclerosis, apo-B-containing lipoproteines, subfractional spread of lipoproteines.

National Research Center for Preventive Medicine of the Ministry of Health, Moscow, Russia.

INFLUENCE OF COVERT CARBOHYDRATE METABOLISM DISORDERS ON THE RISK OF KIDNEY FUNCTION DECLINE

Vatutin N. Т.^1,2, Zinkovych М. I.¹, Yakubenko Е. D.¹

Abstract

Aim. To assess the relation of covert carbohydrate metabolism disorders in patients with acute coronary syndrome (ACS) and declined kidney filtration after percutaneous coronary intervention (PCI).

Material and methods. We compared the prominence of kidney filtration decline in patients after PCI with various grade of carbohydrate metabolism disorder.

Results. Among 144 ACS patients, CIN was diagnosed significantly more frequently (44,8%) in the group with covert glucose intolerance. In the group with normal level of glycation of hemoglobin (<6,0%) CIN developed in 13,0% cases (p<0,001).

Conclusion. The results point on that covert carbohydrate metabolism disorders play significant role in the development of kidney filtration decline.

Russ J Cardiol 2016, 10 (138): 71–74

http://dx.doi.org/10.15829/1560-4071-2016-10-71-74

Key words: glycosylated hemoglobin, acute coronary syndrome, kidney function disorder.

¹M. Gorky Donetsk National Medical University, Donetsk; ²V. K. Gusak Institute of Urgent and Recovery Surgery, Donetsk, Ukraine.

CLINICAL OBSERVATION

DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE

Krylova N . S.^1,2, Poteshkina N . G.^1,2, Demkina А. Е.², Kovalevskaya Е. А.^1,2, Lorenzo Monserrat Iglesias³, Diego Garsia³

Abstract. An unusual case presented, of the disease onset as acute coronary syndrome in 65-year old woman. Based on ECG data, laboratory tests, echocardiography, coronary arteriography and Gadolinium MRI of the heart, coronary heart disease was ruled out, and hypertrophic cardiomyopathy (HCM) suspected. The specifics of current case is absence of the classical signs of HCM on echocardiography: LV hypertrophy was not prominent and was symmetric. Apical HCM was suspected due to specific ECG changes with the giant negative T-waves in left precordial leads, and specifics of delayed deposition of contrast media in MRI. Genetics of the patient's saliva specimen revealed mutation Asp75Asn in myosin binding protein C, which has been previously described just in 7 HCM families. Restricted number of patients with this mutation makes it not possible to be sure of the grade of severity. Dynamic follow-up is recommended of the patient with the aim to prevent disease progression and its complications prevention.

Russ J Cardiol 2016, 10 (138): 75–79

http://dx.doi.org/10.15829/1560-4071-2016-10-75-79

Key words: hypertrophic cardiomyopathy, coronary arteriography, magneteresonance tomography with Gadolinium contrast, myosin-binding protein C gene.

¹N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia; ²CCH № 52 of the Department of Health of Moscow, Russia; ³Hospital Maritimo de Oza, genetics laboratory "HealthInCode", La Corugna, Spain.

MYOCARDIAL INFARCTION AS TYPICAL PRESENTATION OF NONCOMPACTION CARDIOMYOPATHY

Blagova O. V., Nedostup A. V., Pavlenko E. V., Sedov V. P., Kogan E. A., Gagarina N . V., Mershina E. A., Sulimov V. A.

Abstract. The main clinical presentation of noncompaction myocardium (NCM) as nosologic unit are thromboembolic syndrome, heart failure, mostly ventricular arrhythmias and ischemia itself, related to insufficient myocardium blood supply under the noncompacted layer. Also, there are only sporadic cases of myocardial infarction described (MI), including "idiopathic", in NCM.

Aim. To check the prevalence of acute MI in patients with NCM, the specialties of clinical picture, diagnostics, and its probable specific mechanisms, influence on prognosis and its ways of prevention.

Material and methods. Totally, 10 patients included, 7 males and 3 females, mean age — 46,3±15,8 y. o., (30 to 76 y. o.) among 85 patients with verified NCM diagnosis, set in accordance with harmonized visual criteria, and developed MI on this background. In 4 cases the NCM is confirmed with three visualizing criteria (EchoCG, MSCT, MRI of the heart), in 4 other — with the two. Mean follow-up was 10,5 [1,75; 32,25] months — from 1 month to 1 year. All patients underwent ECG, ambulatory ECG recording by Holter, EchoCG, assessment of antibodies against various heart antigens, PCR for DNA of parvovirus and B19, as well as herpes group, in blood; 7 coronary arteriographies, 7 MSCT of the heart, measurement of Troponin (n=7), morphological investigation of the heart with PCR-diagnostic of viral infection (n=6), MRI (n=5) and myocardium scintigraphy with 99mТс (n=6).

Results. In 4 among 10 patients the development of MI was the first presentation of NCM. Prevalence of coronary atherosclerosis in those with MI and NCM was 20%, however in most cases development of MI was not related with coronary atherosclerosis. Intracardiac thrombosis was verified in 60% of patients with MI, embolism to other organs in 30%. The following mechanisms of MI established: 1) thromboembolism to coronary arteries if thrombi are present in the left chambers of the heart (atrium a. w.a. ventricle), verified in 1 patient at autopsy, and is suspected in other five; 2) concomitance of myocarditis, incl. viral, with microvasculitis development and thrombosis of intramyocardial arteries and focal necrosis in ischemized myocardium (n=6); 3) thrombosis of coronary arteries with presence of hemodynamically significant atherosclerosis (probably 1 patient); 4) sudden worsening of blood supply under noncompacted layer under the circumstances of low cardiac output by secondary origins.

Conclusion. MI is typical and unrare complication of NCM: its prevalence reached 11,8% in separate registry of 85 patients with NCM syndrome. Four probable mechanisms of MI (necrosis) in NCM (embolism, thrombosis, myocarditis, microcirculation disorder) might be comorbid. The development of MI leads to serious worsening of the baseline systolic dysfunction and ventricular rhythm disorders: mortality among MI patients with NCM is 20% with the mean time of follow-up 10,5 months. As a preventive matter against MI in NCM should be concerned the anticoagulants at least for atrial fibrillation and in systolic dysfunction, on-time diagnostics and myocarditis management.

Russ J Cardiol 2016, 10 (138): 80–92

http://dx.doi.org/10.15829/1560-4071-2016-10-80-92

Key words: noncompacted myocardum, myocardial infarction, myocardial necrosis, myocarditis, thromboembolism, endomyocardial byopsy.

I. M. Sechenov First Moscow State Medical University of the Ministry of Health, Moscow, Russia.

NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW

Bukaeva А. А.¹, Kotlukova N. P.^2,3, Zaklyazminskaya Е. V.^1,3

Abstract. Noonan syndrome is clinically and genetically heterogenic disease caused by mutations in genes coding the proteins of universal cascade of cellular signaling Ras-MAPK. Recently, about 10 genes known, with mutations leading to the disease development. Among multiple manifestations of the syndrome most clinically and prognostically significant are disorders of cardiovascular system, including hypertrophic cardiomyopathy and pulmonary artery stenosis. In the article, a case is presented of sporadic Noonan syndrome in 5-year old child with left ventricle hypertrophy and obstruction of outgoing flow. Genetic investigation revealed mutation p. S257L of gene RAF1, occurred de novo. Appearance of mutation de novo does not lead to increased risk of the second child birth with same disease by the parents.

Russ J Cardiol 2016, 10 (138): 93–97

http://dx.doi.org/10.15829/1560-4071-2016-10-93-97

Key words: Noonan syndrome, hypertrophic cardiomyopathy, RAS cascade, RAF1, DNA-diagnostics, dynamic observation.

¹V. B. Petrovskiy Russian National Research Centre of Surgery, Moscow; ²Z. A. Bashlyaeva Pediatric City Clinical Hospital. Bashlyaeva, Moscow; ³N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia.

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

Polyak М. Е.¹, Bukaeva А. А.¹, Shestak А. G.¹, Blagova О. V.², Sveshnikov А. V.³, Lutokhina Yu. А.², Nedostup А. V.², Zaklyazminakaya Е. V.¹

Abstract. 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.

Russ J Cardiol 2016, 10 (138): 98–104

http://dx.doi.org/10.15829/1560-4071-2016-10-98-104

Key words: non-compaction myocardium syndrome, ventricular tachicardia, myocarditis, sarcomere proteines genes mutations, radiofrequency ablation.

¹V. B. Petrovskiy Russian National Research Centre of Surgery, Moscow; ²I.M. Sechenov First Moscow State Medical University of the Ministry of Health, Moscow; ³N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia.

CLINICAL CASE

EFFECTIVENESS OF THROMBOLYSIS BY NON-IMMUNOGENIC STAPHYLOKINASE IN PATIENT WITH ST-ELEVATION MYOCARDIAL INFARCTION

Vatutin N. T .^1,2, Kostogryz V. B.¹, Kostogryz А. I.³, Polyakova О. А.¹, Ryabko Е. А.¹, Stolika О. I.¹, Zagoruyko А. N.²

Russ J Cardiol 2016, 10 (138): 105–106

http://dx.doi.org/10.15829/1560-4071-2016-10-105-106

Key words: cardiology, myocardial infarction, reperfusion.

¹V. K. Gusak Institute of Urgent and Recovery Surgery, Donetsk; ²M. Gorky Donetsk National Medical University, Donetsk; ³City Hospital №4, Donetsk, Ukraine.