BackgroundCardiomyopathies represent a rare group of disorders often of genetic origin. While approximately 50% of genetic causes are known for other types of cardiomyopathies, the genetic spectrum of restrictive cardiomyopathy (RCM) is largely unknown. The aim of the present study was to identify the genetic background of idiopathic RCM and to compile the obtained genetic variants to the novel signalling pathways using in silico protein network analysis.Patients and MethodsWe used Illumina MiSeq setup to screen for 108 cardiomyopathy and arrhythmia-associated genes in 24 patients with idiopathic RCM. Pathogenicity of genetic variants was classified according to American College of Medical Genetics and Genomics classification.ResultsPathogenic and likely-pathogenic variants were detected in 13 of 24 patients resulting in an overall genotype-positive rate of 54%. Half of the genotype-positive patients carried a combination of pathogenic, likely-pathogenic variants and variants of unknown significance. The most frequent combination included mutations in sarcomeric and cytoskeletal genes (38%). A bioinformatics approach underlined the mechanotransducing protein networks important for RCM pathogenesis.ConclusionsMultiple gene mutations were detected in half of the RCM cases, with a combination of sarcomeric and cytoskeletal gene mutations being the most common. Mutations of genes encoding sarcomeric, cytoskeletal, and Z-line-associated proteins appear to have a predominant role in the development of RCM.
The potential impact on cardiovascular morbidity and mortality have become one of the most important issues of the coronavirus disease 2019 (COVID-19) pandemic. COVID-19 may be associated with more frequent development of acute cardiovascular complications, while patients with established cardiovascular diseases are characterized by a higher risk of severe infection and adverse in-hospital outcomes. Due to the spread scale of the pandemic, understanding the long-term cardiovascular consequences of COVID-19 is of no less importance. Inability to extrapolate available international data to the Russian population has led to the initiation of a national multicenter study (registry) of patients recovered from COVID-19 and with concomitant involvement of the cardiovascular system or with baseline severe cardiovascular diseases. The article presents its rationale, design and implications of the results for clinical practice.
Background. Imidazoline receptor agonist moxonidine besides its antihypertensive effect, can increase insulin sensitivity, reduce leptin level, improve lipid metabolism. However, the efficacy, tolerability and pleiotropic effects of moxonidine in postmenopausal women with essential hypertension (EH) and metabolic syndrome (MS) are not well established, and it was the objective of this study. Design and methods. 30 postmenopausal women with EH and MS (52,5 ± 0,4 years old) were included. Moxonidine was administered (400-600 mkg/day) for 12 weeks. Waist circumference (WC), hip circumference (HC), WC/HC ratio, body mass index (BMI), insulin, leptin level, glucose, lipid profile of blood serum, index of insulin resistance (HOMA-IR) and index of functional activity of pancreatic beta cells (HOMA-FB), echocardiography, intima-media thickness (IMT) of common carotid arteries (CCA). Results. Moxonidine therapy was associated with blood pressure (BP) decrease, body weight and BMI decrease, high-density lipoprotein (HDL) cholesterol and HOMA-FB index increase. Left atrium diameter and volume decreased, left ventricular diastolic function improved. Conclusions. Moxonidine is an effective antihypertensive drug for the treatment of postmenopausal hypertensive women with MS, which improves a range of metabolic, hemodynamic parameters and leads to the decrease of left atrium volume and diameter.
Carotid stenosis is a multidisciplinary problem that requires the involvement of a specialists’ team, including cardiovascular surgeons, neurosurgeons, endovascular surgeons, cardiologists, neurologists, and internists. In this consensus statement, a group of experts considered the main stages of diagnosing carotid stenosis, as well as discussed, the necessary prevention methods and features of choosing the optimal treatment approach. The aim was to provide concise and structured information on the management of patients with carotid stenosis. This document was developed based on the updated clinical guidelines of the European Society for Vascular Surgery and the American Association for Vascular Surgery, taking into account the consensus opinion of Russian experts.
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