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.

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