New opportunities for identifying the risk of cardiovascular events in young people: the role of familial hypercholesterolemia

A search was made for publications on modern methods for determining cardiovascular risk in young people with positive family history for early cardiovascular events. The use of various screening options allows timely identification of patients with heterozygous familial hypercholesterolemia who have a high cardiovascular risk. The most effective method is cascade screening. Cardiovascular risk assessment systems that include a family history of early cardiovascular events and lipid profiles in individuals under 40 years of age provide prevention of atherosclerosis. In the diagnosis of risk, the lipoprotein (a) is of particular clinical importance, elevated concentrations of which are associated with a high risk of vascular damage and an unfavorable course of atherosclerosis

ВЫЯВЛЕНИЕ И ДИСПАНСЕРНОЕ НАБЛЮДЕНИЕ ДЕТЕЙ С СИНДРОМОМ УДЛИНЕННОГО ИНТЕРВАЛА QT

Aim To assess the diagnostic accuracy of long QT syndrome in children and to estimate the results of the follow-up.Methods High-risk groups of children with bradycardia less than the second percentile and/or a family history of sudden death syndrome, and children with syncope diagnosed with the ECG testing were included in the study. All patients underwent routine medical examination, molecular genetic testing and were followed-up for 3,5–10 years.Results The majority of children haves transient corrected QT prolongation secondary to therapy, requiring ECG monitoring. High-risk group screening reports higher rates of idiopathic LQTS. ECG testing shows its efficiency among asymptomatic children with a normal heart rate. Patients present with syncope at the outpatient settings require the exclusion of a wide range of diseases, both congenital and acquired heart disease. The clinical status of the examined patients does not always correspond to the known LQTS variants. Molecular genetic analysis provides relevant information on the genetic heterogeneity of the disease, including new mutations, both pathological and beneficial ones.Conclusion Regardless of the presence or absence of molecular genetic confirmation of LQTS, beta blocker therapy in some cases combined with implanted cardioverterdefibrillator prevents the development of the adverse events in the long-term period and ensures normal emotional, intellectual and physical development.Цель Изучить эффективность диагностики синдрома удлиненного интервала QT (СУИQT) у детей и результаты наблюдения детей по данным катамнеза.Материалы и методы Проведено обследование детей двух групп риска – новорожденных с брадикардией менее 2 перцентиля и семейным анамнезом внезапной смерти, и детей с синкопе с помощью ЭКГ-скрининга, комплексного обследования выделенных групп, и наблюдение детей в течение 3,5–10 лет .Результаты Установлено, что в периоде новорожденности значительная часть детей имеет преходящее вторичное удлинение корригированного QT, что требует ЭКГ-контроля после лечения. Обследование детей из групп риска имеет большую вероятность выявления пациентов с идиопатическим СУИQT, тогда как у бессимптомных детей с нормальной частотой сердечного ритма выявление больных возможно только при проведении ЭКГ-скрининга. У пациентов с синкопе на амбулаторном этапе обследования необходимо исключение широкого спектра заболеваний, включая врожденные и приобретенные болезни сердца. Клинический статус наблюдаемых больных не всегда соответствует известным вариантам СУИQT.Заключение Независимо от наличия или отсутствия молекулярно-генетического подтверждения диагноза терапия бета-адреноблокаторами, и в ряде случаев ее сочетание в комбинации с имплантированным кардиовертером-дефибриллятором обеспечивает в течение длительного времени клиническую стабильность пациентов, удовлетворительные темпы эмоционального, интеллектуального и физического развития, предотвращает развитие сердечных событий с неблагоприятным исходом

Basic therapy efficacy in children with pulmonary hypertension related to congenital heart defects: place of endothelial dysfunction and systemic inflammation markers

Aim. To evaluate efficacy of the specific therapy by results of 4-year observation of patients with pulmonary arterial hypertension associated with congenital heart defects (PH-CHD)Material and methods. The evaluation is provided, of endotheliumcondition dynamics during one year (baseline, in 6 and 12 months) by the level of endothelium dysfunction markers, cells reparation and proinflammatory factor — interleukin-1. Dynamics of clinical status of patients and of the condition of the right heart chambers by echocardiography with Doppler study, was monitored during 4 years.Results. In severe PH patients under bosentan complex therapy the clinical improvement was marked as exercise tolerance improvement, decreased rate of pulmonary crises and decreased functional class of the disease, tendency to increase life duration. In bosentan group, there was 10-time reduction of vascular endothelial growth factor level, double decrease of sPECAM-1 and by 70% — of proinflammatory cytokine interleukin-1. In moderate and severe PH without bosentan therapy there was statistically significant increase of sPECAM-1, increase of vascular endothelial growth factor by 5 and 2 times, respectively, and progression of the disease.Conclusion. For infants with PH-CHD, complex bosentan therapy makes it for clear clinical improvement related to antiproliferative and antiaggregant effects, which are mediated by non-selective inhibition of endothelin-1 receptors. Absence of PH-specific therapy determines the progression of disease, irrelevant to functional class

Diagnostics of myocardial damage in premature newborns with transient heart disease in the early neonatal period

Purpose. To assess frequency and severity of myocardial damage in premature infants with transient myocardial ischemia in the early neonatal period.Materials and methods. The study includes 73 newborns of a gestational age of 31–36 weeks with respiratory failure and oxygen dependence in the first 2 hours of life. Newborns are divided into groups: Group 1: classic electrocardiographic criteria of transient myocardial ischemia and an increase in the level of troponin I in the blood; Group 2: electrocardiographic criteria for transient myocardial ischemia and a normal level of troponin I; Group 3: no ECG changes and normal troponin I level. We assessed blood gases, conducted electrocardiography, determined troponin I in the blood on the 1st and 7th day of life, assesses duration of oxygen therapy in all the children.Results. Group I: troponin I concentration on the 7th day of life – 0.415 [0.222; 0.639] ng/ml, Group II – 0.073 [0.051; 0.104] ng/ml and Group III – 0.017 [0.006; 0.051] ng/ml. Transient myocardial ischemia was detected in 41% of examined patients, and destructive myocardial changes – in 21.9%. An analysis of the gas composition of blood in the first 2 hours demonstrated that there was a significant predominance of the level of bases in the children of Group I. The duration of artificial ventilation in children of Group I was 56 [3; 96] hours, exceeding the indicators of children of Group II (9 [8; 11]) by 5 times, and Group III (20.5 [13; 72]) – by 2.5 times. Also newborns in Group I experienced a maximum need for oxygen therapy through a mask.Conclusion. 21.9% of premature infants experience destructive myocardial changes against the background of transient myocardial ischemia; newborns with transient myocardial ischemia and destructive changes have a significantly more pronounced metabolic acidosis in the first hours of life and a longer need for oxygen therapy

Right chambers of the heart in children with pulmonary circulation hypervolemia

The ultrasound and angiographic parameters of the right chambers of the heart were analyzed in children with pulmonary arterial hypertension (PAH) associated with congenital heart defects. The investigation was conducted in relation to the functional class (degree) of PAH. Right cardiac remodeling was found to depend to a greater extent on afterload (pulmonary artery systolic pressure and pulmonary vascular resistance); moreover, diastolic dysfunction developed just in moderate (Functional Class II) PAH. It was ascertained that there was a prompter development of PAH with myocardial systolic and diastolic dysfunction in the presence of congenital malformations with arterial hypoxemia