Targeting the RyR2 to Prevent Atrial Fibrillation

Gillis, Anne M.; Dobrev, Dobromir

doi:10.1161/circep.122.011514

Cited by 3 publications

(1 citation statement)

References 20 publications

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“…This reported case helps to strengthen the role of RYR2 as a disease gene in context of AF. The knowledge of RYR2 variants in patients with AF might become even more crucial for individual molecular therapies, as the RYR2 has already been identified as possible target of prevention and treatment of AF [ 19 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

The Role of RYR2 in Atrial Fibrillation

Boehm

Gaa

Hoppmann

et al. 2023

Case Reports in Cardiology

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Background. Atrial fibrillation (AF) is a common arrhythmia in elderly patients and is associated with increased risk of mortality. The pathogenesis of AF is complex and based on multiple genetic and environmental factors. Genome-wide association studies identified several loci in AF patients, indicating the complex genetic architecture of this disease. In rare cases, familial forms of AF have been described. Today, pathogenic variants in at least 11 different genes are associated with monogenic AF. Case presentation. The 37-year-old male patient presented to our emergency department with AF. At the age of 35, he had already been diagnosed with paroxysmal AF. Additionally, his 34-year-old brother had also been diagnosed with AF as well as nonobstructive hypertrophic cardiomyopathy. Moreover, the patient’s father was diagnosed with AF in his twenties. Transthoracic echocardiography and cardiac MRI revealed a reduced systolic left ventricular ejection without any signs of hypertrophic cardiomyopathy. Genetic testing identified the heterozygous missense variants c.3371C > T, p.(Pro1124Leu) in RYR2 (NM_001035.3) and c.2524C > A, p.(Pro842Thr) in HCN4 (NM_005477.3) in the patient’s and his brother’s DNA. Discussion. This case of familial AF helps to strengthen the role of RYR2 as a disease gene in the context of AF. Although the variant in RYR2 needs to be classified formally as variant of unknown significance, we regard it as probably disease-causing due to the previously published data. As RYR2 has already been identified as a possible target for prevention and therapy of AF, the knowledge of variants in RYR2 might become even more crucial for individual molecular therapies in the future.

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Section: Discussionmentioning

confidence: 99%

The Role of RYR2 in Atrial Fibrillation

Boehm

Gaa

Hoppmann

et al. 2023

Case Reports in Cardiology

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Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia

Kulbachinskaya,

Bereznitskaya

2024

Vopr. sovr. pediatr.

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is primary electrical heart disease characterized by development of polymorphic, including bidirectional, ventricular tachycardia in response to adrenergic stimulation caused by physical or emotional stress. The major CPVT’s clinical manifestation is faintness caused by exercises, emotional stress, or beta-adrenergic agonists administration. This disease has high mortality rate without any treatment. The difficulties of preclinical diagnosis as well as late diagnosis after CPVT’s clinical signs manifestation dictate the need to analyze and systematize all the data on disease’s causes, clinical manifestations, and existing diagnostic approaches. This work has particular focus on the analysis of the disease molecular genetic causes and the spectrum of associated disorders in patients with CPVT regarding its diagnosis, management, and prognosis. Future research topics were determined for improving diagnosis quality and reducing mortality of patients with CPVT.

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Genetic predictors of cardiovascular toxicity in oncohematological patients

Gimatdinova,

Danilova,

Davydkin

et al. 2024

Russ J Cardiol

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Aim. To identify single nucleotide polymorphisms reliably associated with cardiovascular toxicity in oncohematological patients receiving antitumor immunochemotherapy.Material and methods. For the study, 34 patients with an established diagnosis of non-Hodgkin's B-cell follicular lymphoma were prospectively selected at the Clinic of the Samara State Medical University, who were indicated for antitumor immunochemotherapy according to the R-CHOP protocol. During the follow-up, the patients were divided into 2 following groups: the main group consisted of 12 patients with cardiovascular toxicity (mean age, 42,4 (2,8) years, including men — n=3 (25%)), the control group — 22 patients without cardiovascular toxicity (mean age, 39,8 (1,7), including men — n=8 (36%)). Cardiovascular toxicity was verified on the basis of a combination of specific cardiological complaints with a decrease in the left ventricular ejection fraction >10% from the baseline or in absolute terms less than 53% and/or a decrease in the left ventricular longitudinal systolic strain >12% from the baseline and/or an increase in NT-proBNP >125 pg/ml.Results. The study presents the identified genetic features in oncohematological patients in the context of cardiovascular toxicity. ABCC5 rs1879257, PRKAG2 rs13224758, RYR2 rs10925391 and SLC22A7 rs414917 variants had a significant association with an increased risk of cardiovascular toxicity in the target group of patients by 5-6 times. In addition, the ABCB1 rs2032582 variant showed the opposite effect and was associated with a reduced risk of cardiovascular complications, having a protective effect on the cardiovascular system.Conclusion. Although further studies are needed to confirm the diagnostic and prognostic significance of the detected genetic variants, the study results indicate the prospects of genetic screening before antitumor immunochemotherapy as a future tool for stratifying oncohematological patients and minimizing cardiovascular toxicity.

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Targeting the RyR2 to Prevent Atrial Fibrillation

Cited by 3 publications

References 20 publications

The Role of RYR2 in Atrial Fibrillation

The Role of RYR2 in Atrial Fibrillation

Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic predictors of cardiovascular toxicity in oncohematological patients

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