scholarly journals Methylation of f2rl3, cdkn2a genes and sudden cardiac death

2022 ◽  
Vol 17 (4) ◽  
pp. 6-10
Author(s):  
A. A. Ivanova ◽  
A. A. Gurazheva ◽  
S. V. Maksimova ◽  
S. K. Malyutina ◽  
V. P. Novoselov ◽  
...  

The aim of the study was to evaluate the association of methylation of the F2RL3, CDKN2A gene with sudden cardiac death (SCD). Material and methods. Case-control study design. The SCD group included 150 deceased men (mean age 46.7 ± 9.2 years) with the main pathological diagnoses of acute circulatory failure, acute coronary insufficiency, which meets the SCD criteria of the European Society of Cardiology. The control group included 150 men who died suddenly, but not due to cardiovascular pathology (mean age 42.6 ± 1.2 years). DNA was isolated by phenol-chloroform extraction from myocardial tissue in both groups. The methylation status of the F2RL3 gene (19: 16890405-16890606, GRCh38.p13) and the CDKN2A gene (9: 21974726-21974877, GRCh38.p13) was assessed by methyl-specific polymerase chain reaction. Results. In the SCD group, 17.3 % (26/150) had the F2RL3 gene completely methylated (MM); in 6.0 % (9/150) it is completely unmethylated (UU); 76.7 % (115/150) had both methylated and unmethylated F2RL3 (MU) gene. In the control group, 16 % (24/150) had the F2RL3 gene completely methylated (MM); in 5.3 % (8/150), it is completely unmethylated (UU); 78.7 % (118/150) had both methylated and unmethylated F2RL3 (MU) gene. When comparing the groups, there were no statistically significant differences in the methylation status of the F2RL3 gene between the groups (p > 0.05). In all subjects in the SCD group and the control group, the CDKN2A gene is completely unmethylated. Conclusions. Methylation of genes F2RL3, CDKN2A is not associated with sudden cardiac death.

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 614
Author(s):  
Diana Hernández-Romero ◽  
María del Rocío Valverde-Vázquez ◽  
Juan Pedro Hernández del Rincón ◽  
José A. Noguera-Velasco ◽  
María D. Pérez-Cárceles ◽  
...  

In approximately 5% of unexpected deaths, establishing a conclusive diagnosis exclusively on the basis of anatomo-pathological findings in a classic autopsy is difficult. Postmortem biomarkers have been actively investigated as complementary indicators to help to reach valid conclusions about the circumstances of death. Several studies propose either the pericardial fluid or peripheral veins as a location for troponin determination, but the optimum sampling site is still a matter of debate. Our objective was to evaluate the association between the ratio of troponin values in the pericardial fluid and serum (determined postmortem) and the diagnosis of acute myocardial infarction (AMI) in the context of sudden cardiac death. We included 175 forensic cases. Two groups were established: AMI deaths (48; 27.4%) and the control group (127; 72.6%). The cardiac Troponin I (cTnI) values in the pericardial fluid and the troponin ratio were found to be associated with the cause of death. Univariate regression analyses showed that both age and the cTnI ratio were significantly associated with the diagnosis of AMI death. In a multivariate analysis, adjusting for confounding factors, the age and cTnI ratio were independent predictors of death from myocardial infarction. We performed a receiver operating characteristic (ROC) curve for the cTnI ratio for AMI death and selected a cut-off point. Our biomarker was found to be a valuable and highly effective tool for use in the forensic field as a complementary method to facilitate diagnosis in nonconclusive autopsies.


2016 ◽  
Vol 48 (1-2) ◽  
pp. 111-117 ◽  
Author(s):  
Eeva Hookana ◽  
Hanna Ansakorpi ◽  
Marja-Leena Kortelainen ◽  
M. Juhani Junttila ◽  
Kari S Kaikkonen ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Reiner Buchhorn ◽  
Christian Müller ◽  
Christian Willaschek ◽  
Kambiz Norozi

Background. Although stimulants have long been touted as treatments for attention deficit disorder with or without hyperactivity (ADHD), in recent years, increasing concerns have been raised about the cardiovascular safety of these medications. We aimed to prove if measurements of autonomic function with time domain analysis of heart rate variability (HRV) in 24-hour Holter ECG are useful to predict the risk of sudden cardiac death in ADHD children and adolescents. Methods. We analysed HRV obtained from children with the diagnosis of ADHD prior to (N=12) or during medical therapy (N=19) with methylphenidate (MPH), aged 10.8±2.0 years (mean ± SD), who were referred to our outpatient Paediatric Cardiology Clinic to rule out heart defect. As a control group, we compared the HRV data of 19 age-matched healthy children without heart defect. Results. Average HRV parameters from 24-hour ECG in the ADHD children prior to MPH showed significant lower values compared to healthy children with respect to rMSSD (26±4 ms versus 44±10 ms, P≤0.0001) and pNN50 (6.5±2.7% versus 21.5±9.0%, P≤0.0001). These values improved in MPH-treated children with ADHD (RMSSD: 36±8 ms; pNN50: 14.2±6.9%). Conclusion. Children who suffer from ADHD show significant changes in HRV that predominantly reflects diminished vagal tone, a well-known risk factor of sudden cardiac death in adults. In our pilot study, MPH treatment improved HRV.


2020 ◽  
Vol 6 (1) ◽  
pp. e000694
Author(s):  
Femke M A P Claessen ◽  
Heidi A P Peeters ◽  
Bastiaan J Sorgdrager ◽  
Peter L J van Veldhoven

ObjectivesTraditionally, early repolarisation (ER) is considered a benign ECG variant, predominantly found in youths and athletes. However, a limited number of studies have reported an association between ER and the incidental occurrence of ventricular fibrillation or sudden cardiac death. Yet definite, direct comparisons of the incidence of ER in unselected, contemporary populations in athletes as compared with non-athletes and across different sports are lacking. This study therefore aimed to investigate whether ER is more common among athletes as compared with non-athletes, and if ER patterns differ between sport disciplines based on static and dynamic intensity.MethodsTo assess ER we retrospectively analysed ECGs of 2241 adult subjects (2090 athletes, 151 non-athletes), who had a sports medical screening between 2010 and 2014 in an outpatient clinic. The outcome was tested for confounders in a multivariable logistic regression analysis.ResultsER was found in 502 athletes (24%). We found a 50% higher prevalence of ER in the athlete group compared with the control group (OR 1.5 (SE 0.34), adjusted 95% CI 1.0 to 2.4) in multivariable analysis. A 30% higher prevalence of ER in the inferior leads only (OR 1.3 (SE 0.38), adjusted 95% CI 0.74 to 2.3), a 120% higher prevalence of ER in the lateral leads only (OR 2.2 (SE 1.0), adjusted 95% CI 0.87 to 5.4), and a 20% higher prevalence of ER in the inferior and lateral leads (OR 1.2 (SE 0.49), adjusted 95% CI 0.55 to 2.7) was found in athletes.ConclusionAthletes had a 50% higher prevalence of ER and a 30% higher prevalence of ER in the inferior leads specifically. There was no association between training duration or sports discipline and ER.


Author(s):  
Constantinos O’Mahony

Sudden cardiac death (SCD) secondary to ventricular arrhythmias is the most common mode of death in hypertrophic cardiomyopathy (HCM) and can be effectively prevented with an implantable cardioverter defibrillator (ICD). The risk of SCD in HCM relates to the severity of the phenotype and regular risk stratification is an integral part of routine clinical care. For the primary prevention of SCD, risk stratification involves the assessment of seven readily available clinical parameters (age, maximal left ventricular wall thickness, left atrial diameter, left ventricular outflow tract gradient, non-sustained ventricular tachycardia, unexplained syncope, and family history of SCD) which are used to estimate the risk of SCD within 5 years of clinical evaluation using a statistical risk prediction model (HCM Risk-SCD). The 2014 European Society of Cardiology Guidelines provide a framework to aid clinical decisions and consider patients with a 5-year risk of SCD of less than 4% as low risk and recommend regular assessment while those with a risk of 6% or higher should be considered for an ICD. In patients with an intermediate risk (4% to <6%) ICD implantation may also be considered after taking into account age, co-morbid conditions, socioeconomic factors, and the psychological impact of therapy. Survivors of ventricular fibrillation arrest should receive an ICD for secondary prevention unless their life expectancy is less than 1 year. Following device implantation, patients should be followed up for device- and disease-related complications, particularly heart failure and cerebrovascular disease.


2015 ◽  
Vol 39 (9) ◽  
pp. 1797-1804 ◽  
Author(s):  
Shu-I Wu ◽  
Shang-Ying Tsai ◽  
Ming-Chyi Huang ◽  
Robert Stewart ◽  
Chian-Jue Kuo ◽  
...  

2008 ◽  
Vol 9 (6) ◽  
pp. 595-600 ◽  
Author(s):  
Alessandro Filippi ◽  
Emiliano Sessa ◽  
Giampiero Mazzaglia ◽  
Serena Pecchioli ◽  
Rachele Capocchi ◽  
...  

2013 ◽  
Vol 66 (5-6) ◽  
pp. 225-232
Author(s):  
Sanja Mazic ◽  
Biljana Lazovic ◽  
Marina Djelic ◽  
Zoran Stajic ◽  
Zdravko Mijailovic

Introduction. The use of electrocardiogram in athletes as a routine screening method for diagnosing potentially dangerous cardiovascular diseases is still an issue of debate. According to the guidelines of the European Society of Cardiology, the recording of electrocardiogram is necessary in all athletes as a screening method, whereas the guidelines of the American Heart Association do not necessitate an electrocardiogram as a screening method and they insist on detailed personal and family history and clinical examination. Classification of electrocardiogram changes in athletes. According to the classification of the European Society of Cardiology, electrocardiogram changes in athletes are divided into two groups: a) usual (physiological) that are connected with training; b) unusual (potentially clinically relevant) that are not connected with training. Sudden cardiac death in athletes. The most frequent causes include hypertrophic cardiomyopathy and congenital coronary artery anomalies, while others may be found only sporadically at autopsy. Physiological electrocardiogram changes are frequent in asymptomatic athletes and they do not require further assessment. They include sinus bradycardia, atrioventricular blocks of I and II degree - Wenkebach, isolated increased QRS voltage, incomplete right bundle branch block and early repolarization. Potentially pathological electrocardiogram changes in athletes are not frequent but they are alarming and they urge further assessment to diagnose the underlying cardiovascular disease as well as the prevention of sudden cardiac death. They include: T wave inversion, ST segment depression, complete right or left bundle branch block, atrial pre-excitation syndrome-WPW, long QT interval, short QT interval, Brugada like electrocardiogram finding. Conclusion. Introduction of electrocardiogram recording into the screening protocol in athletes increases the sensitivity of evaluation and may help to discover asymptomatic cardiovascular diseases that may cause sudden cardiac death. Special attention and further assessment are required when the above potentially pathological electrocardiogram changes are found in athletes.


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