Familial hypercholesterolemia: case series of a rare condition

Introduction. Cardiovascular events at a young age are often the first manifestation of a genetic disorder such as familial hypercholesterolemia. High cholesterol levels, xanthomas and xanthelasmas, as well as a positive family history of cardiovascular disease, make it possible to identify a group of patients subject to genetic research. The identification of a specific mutation helps to determine further strategy not only for a patient, but also to his or her immediate relatives, thereby effectively conducting both secondary and primary prevention of atherosclerosis complications.Brief description. Using the example of patients from the Krasnodar Lipid Center, the relevance of genetic testing and cascade screening is demonstrated. We show problems of delayed diagnosis and low medical adherence, as well as the ways to optimize care for patients with genetic lipid metabolism disorders.Discussion. The rise in the incidence of cardiovascular events at a young age in developed countries prompts the search for more improved screening and diagnostic methods for familial hypercholesterolemia. The optimal age of initiation of lipid-lowering therapy in children with established familial hypercholesterolemia is also discussed. While secondary prevention appears to be clearer, there is still insufficient achievement of low-density lipoprotein cholesterol targets in patients with a previous cardiovascular event

Results of dynamic follow-up for patients with myocardial infarction without obstructive lesion of coronary arteries: data of the overall register for acute coronary syndrome in Krasnodar region

Background. Myocardial infarction (MI) without obstructive lesion of coronary arteries (MINOCA) has incidence  to 14%. Despite its high prevalence,  MINOCA is paid not enough attention, therefore some patients can not receive appropriate treatment.Aim. Evaluating the long-term results of clinical observation in patients with MINOCA  in comparison with patients with obstructive damage and the subsequent revascularization of myocardium.Material and methods. On the basis of Scientific Research Institute RCH – 1 the multicenter cohort observation was organized. Patients from the register CROCS (the register of acute coronary syndrome in Krasnodar region) with the  diagnosis MI were divided into two groups: MINOCA including patients without obstructive damage of coronary arteries and MINOCA including patients with obstructive injury and the subsequent stenting a heart attack connected artery. All patients in 12 months would have control assessment during which they had objective survey; electrocardiography; daily monitoring; test of six-minute walking, echocardiography. Results. In the MINOCA group in 12 months after the acute coronary event in 21.5% cases there were tension stenocardia, in 16.2% – a painless form of myocardial ischemia was revealed, in a group of patients with MINOCA stenocardia of tension was revealed at 12.5% and 8.4% – with painless ischemia. The group of patients with MINOCA is characterized  by more reliable decrease in both parameters of heart rate variability, and turbulence of heart rate. MINOCA is followed by statistically significant increase in risk of ACS development and death within 12 months. All indicators had reliable difference.Conclusion. Patients with MINOCA are a special group, their differential characteristics demand definite diagnostic efforts

Echocardiographic phenomenon “RAC-sign” in the anomalous course of circumflex artery: a case report

Coronary artery (CA) anomalies are a group of congenital heart defects  with a diverse clinical performance, from lifelong asymptomatic to severe consequences such as sudden cardiac death. In some cases,  CA anomalies become  an incidental finding during echocardiography.  If there is a suspicion of CA anomaly, a radiographic investigation (computed tomography (CT) angiography or magnetic resonance imaging) should be performed to clarify the anatomy and indications for surgical correction.A case of diagnosing a tubular structure with hyperechoic  walls in mitral valve projection during echocardiography  is presented. The performed CT angiography confirmed the abnormal origin of circumflex artery from the right sinus of Valsalva with its retroaortic course. This echocardiographic  sign is described in the English-language literature as Retroaortic Anomalous Coronary sign (RAC-sign)

Echo-cardiographic parameters for atrial fibrillation in combination with acute coronary syndrome in real clinical practice according to register of acute coronary syndrome in the Krasnodar region

Aim. To evaluate patients with acute coronary syndrome (ACS) in combination with atrial fibrillation (AF) according to the total register of ACS in the Krasnodar region of echocardiographic (EchoCG) parameters (left atrial dimension (LAD), left ventricular wall thickness (LVWT), left ventricle end-diastolic diameter (LVEDD), left ventricular ejection fraction (LVEF), pulmonary artery systolic pressure (PASP), as well as coronary substrate assessment according to coronary angiography (CAG) and determination of the relationship between the value of LVEF and the coronary substrate.Material and methods. From the register of the ACS in the Krasnodar region, patients were successively taken to the cardiology departments of Krasnodar regional clinical hospital № 1 for the period from November 20, 2015 to November 20, 2017 with a diagnosis of ACS, accompanied by one of the types of atrial fibrillation. This group of patients was designated as a group of ACS + AF and amounted to 119 patients. The comparison group was selected with the help of a random number generator from patients admitted to the hospital with ACS and intact sinus rhythm (SR) for the period of time from November 20, 2015 to November 20, 2017 (120). We analyzed the ECHO-CG parameters, the coronary substrate — according to the CAG.Results. When comparing the cohort of patients with ACS + AF with the cohort of patients with ACS + SR, we determined a significant (p<0,05) difference of LA size, LVEF and values of PASP. During comparing the presence of hemodynamically significant stenosis in the coronary arteries we noticed that in ACS + AF patients with LVEF <40% in significantly higher percentage of cases (p=0,0007) occurs significant hemodynamic stenosis of coronary arteries, in contrast to the group of patients with ACS + SR with LVEF <40%. In patients with EF >40% and ACS + SR we determined a significantly more frequent (p<0,001) stenosis.Conclusion. The results of the analysis are important for understanding the distinguishing characteristics of patients with ACS that occur on the background of AF, which is important for correct prediction of the course of the disease. The maintenance of the ACS register will provide information on the real clinical course of the disease, as well as improve the effectiveness of treatment in real clinical practice

Difficult diagnostics of a rare cause of pulmonary hypertension: a case report

Pulmonary hypertension is a syndrome difficult for differential diagnosis, which is the outcome of various pathological conditions. With the exclusion of the most common causes of pulmonary hypertension (left heart disorders and pulmonary embolism), further search for cause often becomes an insoluble problem. Sezary syndrome is classified as a rare type of cutaneous T-cell lymphomas. Early diagnosis of this syndrome is important for the initiation of adequate therapy, since cases of complete recovery or long-term remission in patients with Sezary syndrome are very rare. A case report of Sezary syndrome verification in cardiology practice is described

Specifics of acute coronary syndrome associated with atrial fibrillation in real world clinical practice (based on the registry of the Krasnodar Region)

Background: Coronary heart disease is the most common cardiovascular disorder, while atrial fibrillation (AF) is the most common heart arrhythmia.Aim: To perform a comparative analysis of the coronary substrate assessed by coronary angiography in patients with acute coronary syndrome (ACS) in combination with various AF types, as well as to analyze abnormal electrocardiographic findings and blood troponin levels in patients with ACS and AF versus ACS patients with sinus rhythm.Materials and methods: We retrospectively analyzed medical files 13,244 ACS patients entered into the total ACS registry in the Krasnodar Region from 20.11.2015 to 20.11.2017. In 1204 (9%) of them ACS was associated with AF (ACS + AF group, n = 119), the remaining 12 040 (91%) patients had sinus rhythm (ASC + SR group, n = 120).Results: Compared to the ACS + SR group, the troponin levels were significantly (р ≤ 0,05) higher in the ACS + AF group. No statistically significant differences between two groups were found for localization of hemodynamically significant coronary stenoses at coronary angiography. Only 25.0% (p = 0.1689) of patients with ACS + AF without ischemic electrocardiographic changes (ST depression or elevation) had no hemodynamically significant coronary stenoses at coronary angiography.Conclusion: AF in ACS patients is an important factor in the course of the disease and is characterized by higher blood troponin levels and significantly more frequent absence of ischemia-related electrocardiographic changes, compared to the ACS patients with sinus rhythm

Prediction of the Possibility of Hemorrhagic Syndrome during Combined Antiplatelet Therapy According to the Krasnodar Region Registry

Background. According to the literature data, acute coronary syndrome (ACS) in 2-20 % of cases is combined with atrial fibrillation (AF). According to the current guidelines of the European Society of Cardiology (ESC), patients with coexisting AF and ACS should receive dual antiplatelet therapy for the prevention of recurrent cardiovascular events and anticoagulant therapy for the prevention of thromboembolic complications. However, this combination is fraught with the development of hemorrhagic syndrome.Aim. To develop a model and software module for predicting possible bleeding in patients with ACS combined with AF taking three-component antithrombotic therapy.Materials and Methods. To build prognostic models for the development of hemorrhagic syndrome, a statistical method was used for classification trees and the neural network procedure implemented in the STATISTICA package. To build prognostic models, a sample was used consisting of 201 patients with a combination of ACS and AF with and without fatal outcome, the state of which was described by 42 quantitative and qualitative clinical indicators. The control group included 205 patients with ACS and intact sinus rhythm.Results. To identify predictors of predictive models of the possible development of hemorrhagic syndrome in patients with triple antithrombotic therapy, the Spearman correlation coefficient was used. The study of correlations allowed to reveal clinical indicators – predictors of prognostic models. After analyzing the predictive ability of the developed models, a software module was created in the Microsoft Visual C # 2015 programming environment that allows determining the possibility of hemorrhagic syndrome in patients with a combination of ACS and AF using classification trees and neural networks.Сonclusion. A classification model and a software module were developed to predict possible bleeding in patients taking three-component antithrombotic therapy. Models contain both quantitative and qualitative (categorical) clinical indicators. The current level of development of data analysis technologies opens up broad horizons for medicine in solving problems on real medical data, without translating them into scoring risk scales, including prediction of the diagnosis of the disease, stage of the disease, treatment outcome, possible complications, etc. High reliability of such systems can be provided by large volumes of medical data accumulated on servers

Predicting Methods for Analyzing Data on Fatal Outcome Possibility in the Combination of Acute Coronary Syndrome and Atrial Fibrillation According to the Krasnodar Region Registry

With the development of atrial fibrillation (AF), patients with acute coronary syndrome (ACS) are characterized by a twofold increase in the 30-day mortality compared with patients with sinus rhythm. In this regard, there is great interest in developing models of risk stratification to identify adverse outcomes in these patients with a view to more careful monitoring of patients in this group.Material and methods. For the construction of predictive models, a statistical method was used for the classification trees and, the procedure for neural networks implemented in the STATISTICA package. For the construction of prognostic models, a sample was used, consisting of 201 patients with and without fatal outcome; condition of each patient was described by 42 quantitative and qualitative clinical indices. Each patient belonged to one of 3 groups according to the type of AF: new-onset AF in ACS patient, paroxysmal AF, documented in an anamnesis before the episode of ACS and the constant or persistent form of AF.Results. To determine predictors of models predicting the possible fatal outcome of a patient, the Spearman correlation coefficient was used. Examination of the correlations for each of the 3 groups separately allowed to reveal clinical indicators for each group – predictors of predictive models with predominantly moderate correlations to the categorical variable “lethal outcome”. After analyzing the prognostic ability of the developed models, a software module was created in the Microsoft Visual C # 2015 programming environment to determine lethal outcome possibility in patients with ACS in the presence of AF using classification trees and neural networks.Conclusion. It is shown that for patients with ACS in the presence of AF, it is possible to construct mathematically based prognostic models that can reliably predict the lethal outcome possibility in patients based on actual values of clinical indices. In this case, clinical indicators can be both quantitative and qualitative (categorical), breaking patients into certain categories. Similar applications, unlike risk scales, are mathematically justified and can form the basis of systems for supporting decision-making