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1.
Kardiologiia ; 60(4): 137-145, 2020 Mar 18.
Article Ru | MEDLINE | ID: mdl-32394868

Aim To study the clinical course of the mixed phenotype (hypertrophic cardiomyopathy, HCMP, and left ventricular noncompaction, LVNC); to determine its genetic causes; and to evaluate incidence of cardiovascular complications (CVC) during the follow-up period.Material and methods In screening of 286 patients with HCMP, 8 of them (2.8 %; median age, 41.5 years; 4 men and 4 women) from unrelated families were found to have the mixed phenotype (combination of HCMP and LVNC). For their 10 first-degree relatives, the most frequent phenotype was HCMP without LVNC; however, both isolated LVNC and the mixed phenotype were also observed. Criteria for HCMP and LVNC were confirmed by echocardiography and cardiac magnetic resonance imaging Genotyping was performed by high-throughput sequencing NGT using the TruSight Cardio Sequencing Panel kit.Results Probands with the HCMP+LVNC combination compared to first-degree relatives with isolated HCMP and LVNC were characterized by more pronounced left ventricular dysfunction (ejection fraction, 43.57±7.6 and 53.64±6.51 %, respectively; p<0.001), a higher risk of CVC, and a higher incidence of ventricular tachyarrhythmias (7.9 and 2.2 %, respectively; p<0.01). 11 mutations in 5 genes were found in 8 patients with the mixed phenotype. 72.7 % of mutations were in the MYH7 and MYBPC3 genes that encode the heavy chain of ß-myosin and myosin-binding protein C, respectively; however, in some cases, replacements in other genes (DTNA, TGFB2) were also found.Conclusion The mixed phenotype (HCMP and LVNC) is associated with more severe clinical course of the disease and unfavorable CVC.


Cardiomyopathy, Hypertrophic , Ventricular Dysfunction, Left , Adult , Echocardiography , Female , Heart Ventricles , Humans , Male , Phenotype
2.
Kardiologiia ; 52(12): 40-4, 2012.
Article Ru | MEDLINE | ID: mdl-23237440

Aim of the study was to determine criteria of phases of stress reaction in humans to psychoemotional loading taking into account regulatory systems of adaptational reserves of organism. We examined representatives of professions potentially exposed to stress and investigated a spectrum of derangements of regulatory systems of the organism (neurovegetative system and cognitive function) under conditions of development of different phases of stress reaction to psychoemotinal loads. The proposed approach will allow to obtain efficiently quantitative assessment of phases of stress reaction in humans at different levels of adaptation to it. This approach can be used in clinical medicine.


Adaptation, Physiological/physiology , Cardiology/methods , Circadian Rhythm/physiology , Heart Rate/physiology , Stress, Psychological/diagnosis , Adult , Exercise Test/methods , Female , Humans , Male , Stress, Psychological/physiopathology
3.
Fiziol Cheloveka ; 37(5): 73-6, 2011.
Article Ru | MEDLINE | ID: mdl-22117460

The stress reactions phases have been studied in humans in psychoemotional strain. The stress reactions phases objective criteria associated with certain cardiac rhythm variability alterations and cognitive function have been revealed. The study was performed using computerized Stroop-test.


Cognition , Heart Rate , Stress, Psychological/physiopathology , Stroop Test , Adult , Female , Humans , Male , Middle Aged
4.
Kardiologiia ; 51(6): 44-8, 2011.
Article Ru | MEDLINE | ID: mdl-21878070

We studied impact of ethylmethylhydroxypyridine succinate n the course of chronic heart failure during 3 years follow-up after myocardial infarction. Dynamics of objective and subjective parameters was assessed in 100 patients; 48 patients received conventional therapy (control group) and 52 patients received conventional therapy plus ethylmethylhydroxypyridine succinate (main group). Addition of ethylmethylhydroxypyridine succinate resulted in decreases of rates of complications, mortality, and re-hospitalizations. Increases of myocardial contractile function, myocardial adaptation, as well as improvement of range of biochemical parameters were also observed. The latter changes were indicative of antioxidant, anti-inflammatory, anti-stress activities of Ethylmethylhydroxypyridine succinate. Moreover, antidepressant and antineurotic effects of complex therapy including ethylmethylhydroxypyridine succinate was confirmed.


Heart Failure/drug therapy , Myocardial Contraction/drug effects , Oxidative Stress/drug effects , Pyridines , Ventricular Dysfunction, Left/drug therapy , Antioxidants/administration & dosage , Antioxidants/adverse effects , Cardiotonic Agents/administration & dosage , Cardiotonic Agents/adverse effects , Depression/drug therapy , Depression/etiology , Echocardiography , Female , Health Status Indicators , Heart Failure/etiology , Heart Failure/mortality , Heart Failure/physiopathology , Humans , Male , Middle Aged , Mortality , Myocardial Infarction/complications , Myocardial Infarction/physiopathology , Patient Readmission , Pyridines/administration & dosage , Pyridines/adverse effects , Severity of Illness Index , Treatment Outcome , Ventricular Dysfunction, Left/diagnostic imaging , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/physiopathology
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