Cardiac Arrhythmias

AIM: To evaluate the clinical characteristics of patients with diverse genetic variants of Brugada syndrome.

MATERIALS AND METHODS: 24 patients (17 male and 7 female) aged 18 to 55 years (median age 32.5 [20; 42] years) with a pattern of Brugada syndrome on electrocardiogram were observed for 3 years. From their ECGs, a type 1 pattern was found in 9 (37.5%) of these patients, type 2 pattern in 14 (58.3%) and type 3 pattern only in 1 patient. The clinical and instrumental study included 12-lead electrocardiogram, 24-hour Holter electrocardiogram monitoring, provocative drug test with intravenous administration of sodium channel blockers (novocainamide), electrophysiologic study according to indications, genealogical history collection and family history of sudden cardiac death, transthoracic echocardiography and cardiac magnetic resonance imaging to detect structural myocardial changes. High-throughput sequencing was utilized to search for mutations in genes linked to the onset of channelopathies and other inherited rhythm disorders.

RESULTS: In 15 (62.5%) of the 24 probands included in the study, variants of the nucleotide sequence of pathogenicity classes III–V according to The American College of Medical Genetics and Genomics criteria (2015) were found in genes encoding sodium (SCN5A, SCN10A) and potassium (KCNE3, KCNJ2, KCNJ8, KCNA5) channels, as well as in HCN4 and SNTA1 genes linked with these channels. Moreover, 3 variants were identified in ANK2 gene associated with ankyrinopathies, and 3 variants in DSP and DES genes connected with arrhythmogenic right ventricular cardiomyopathy. Four genetic variants in SCN5A gene were of pathogenicity classes IV and V, the rest were variants of uncertain clinical significance (class III). Six (40.0%) of the 15 genotype-positive patients had several genetic variants. The most severe form of the disease, manifested by the development of ventricular fibrillation with successful resuscitation and subsequent cardioverter-defibrillator implantation, was observed in patients with mutations in SCN5A, SCN10A genes. Recurrent syncope, polymorphic ventricular tachycardia induced by programmed ventricular stimulation during electrophysiologic study, followed by cardioverter-defibrillator implantation were observed in patients with variants KCNJ8 and HCN4, DES and MYH11. In 2 patients with clinical manifestations, no mutations were identified. 13 (54.2%) patients were asymptomatic, while 3 of them had pathogenic and likely pathogenic mutations in SCN5A gene, as well as variants of uncertain clinical significance.

CONCLUSION: Thus, this study examined various genetic variants in patients with Brugada syndrome based on their clinical manifestation. The impact of the genotype on the Brugada syndrome phenotype is not unambiguous. The most severe form of the disease with the development of ventricular fibrillation and successful resuscitation with subsequent cardioverter-defibrillator implantation was observed mainly in patients with variants in several genes (SCN5A and JUP, KCNJ8 and HCN4, DES and MYH11). This substantiate the idea that Brugada syndrome, along with monogenic, may also have a polygenic nature of the disease, in which the clinical phenotype is determined by variants in respective genes linked to the onset of cardiovascular disorders.

BACKGROUND: Group of spondyloarthritis include not only damage of musculoskeletal system, oftenly it’s combination with a variety of comorbid pathologies, primarily involving the cardiovascular system, is characteristic. Given the high importance of early detection, assessment and further prediction of the risks of cardiovascular diseases in this cohort of patients, a competent interpretation of the risks of aggravating cardiovascular diseases and their prevention is one of the priority tasks not only for rheumatologists, but also for specialists in related fields.

AIM: To study the structure of comorbid pathology and assess the frequency of cardiovascular diseases in patients with ankylosing spondylitis, psoriatic arthritis and psoriatic spondyloarthritis, to conduct a comparative analysis of the incidence of cardiovascular comorbidities in different groups of spondyloarthritis.

MATERIALS AND METHODS: The study included 153 patients with a verified diagnosis of spondyloarthritis. Patients were divided into 3 groups depending on the nature of the lesion of the musculoskeletal system: ankylosing spondylitis meeting the modified New York criteria for ankylosing spondylitis (1984) (n = 53), psoriatic arthritis meeting the CASPAR criteria (Classification criteria of Psoriatic Arthritis, 2006) (n = 40) and psoriatic spondylitis simultaneously meeting the modified New York criteria for ankylosing spondylitis and the CASPAR criteria for psoriatic arthritis (n = 60). All patients taken with monoclonal antibodies (inhibitors TNF-alpha).

RESULTS: When studying cardiovascular comorbidity in patients with spondyloarthritis in three groups, arterial hypertension was most common in the ankylosing spondylitis group — 37.7%, in psoriatic arthritis — 62.5%, in the psoriatic spondyloarthritis group — 51.7%, conduction disturbance in ankylosing spondylitis — 28, 3%, in psoriatic arthritis — 17.5%, in the psoriatic spondyloarthritis group — 18.3%, dyslipidemia is significantly more common in the psoriatic arthritis and psoriatic spondyloarthritis groups — 47.5% and 51.7%, respectively, compared with the ankylosing spondylitis group — 18.9%. Along with cardiovascular diseases, endocrine disorders were detected with a high frequency of occurrence: overweight was more common in patients of the psoriatic arthritis and psoriatic spondyloarthritis groups — 35.0 and 38.3%, respectively, significant differences in the incidence of type 2 diabetes mellitus in the three groups has not been identified.

CONCLUSIONS: It is necessary to carry out medical examination in order to identify comorbidities in patients with various forms of spondyloarthritis, in order to determine further tactics of management and correction, depending not only on the activity of the disease, but also taking into account comorbidities.

The continuing application of cardiac implantable electronic devices (CIED) has led to an increasing concern regarding disturbances in the tricuspid valve (TV). The most prevalent TV issue related to lead implantation is tricuspid regurgitation. CIED-induced tricuspid regurgitation is associated with emerging or worsening preexisting heart failure and increased mortality rate. Because discontinuing the implantation of these instruments is not feasible, further knowledge of their mechanical problems may lead to advancements. This review addresses the available data regarding CIED-induced tricuspid regurgitation, elucidating its plausible pathomechanisms, diagnostic methods, and prospective treatments.