Publications by authors named "Behr E"

Aims: Sudden arrhythmic death syndrome (SADS) refers to a sudden death, which remains unexplained despite comprehensive post-mortem examination and a toxicological screen. We aimed to investigate the impact of age and sex on the overall diagnostic yield and underlying aetiology in decedents with SADS using a combined approach of familial evaluation (FE) and molecular autopsy (MA).

Methods And Results: Consecutive referrals to a single centre for FE only, MA only or both, following a SADS death were included.

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The professional identity of scientists has historically been cultivated to value research over teaching, which can undermine initiatives that aim to reform science education. Course-Based Research Experiences (CRE) and the inclusive Research and Education Communities (iREC) are two successful and impactful reform efforts that integrate research and teaching. The aim of this study is to explicate the professional identity of instructors who implement a CRE within an established iREC and to explore how this identity contributes to the success of these programs.

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Background:  The video head impulse test measures high-frequency vestibulo-ocular function of all six semicircular canals. Isolated semicircular canal dysfunction has been correlated with several peripheral and central vestibular etiologies. Selective bilateral posterior canal dysfunction is a trend seen in the clinical setting but less commonly reported in the medical literature.

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In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

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  • Inappropriate therapy (IAT) is a significant issue associated with implantable cardiac defibrillator (ICD) therapy, particularly highlighted in early subcutaneous ICD (S-ICD) studies which showed high rates of inappropriate shocks (IAS).
  • The PRAETORIAN trial, an international study with 849 patients, found no major differences in IAT and IAS rates between S-ICD and transvenous ICD (TV-ICD) groups, as both groups had similar cumulative incidences.
  • Key predictors for IAT varied between the two groups, with TV-ICD patients experiencing IAT mainly from supraventricular tachycardias, while S-ICD patients faced issues from cardiac oversensing
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  • The S-ICD was created to eliminate lead-related issues found in the TV-ICD, as it is an external device that sits under the skin rather than using leads inside the body.
  • This analysis comes from the PRAETORIAN trial, where patients were randomly assigned to either S-ICD or TV-ICD and assessed for quality of life through various questionnaires at different stages.
  • Results showed no significant differences in physical and mental well-being between the groups, but patients who experienced a shock recently reported lower social functioning and emotional health compared to those who did not.
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Background: Guidance and outcomes of coronary ischemia assessment (IA) in those with structural heart disease (SHD), presenting with monomorphic ventricular tachycardia (MMVT) is unclear.

Objectives: To assess the impact of IA on arrhythmic and non-arrhythmic outcomes in those with SHD.

Methods: Patients presenting with MMVT over a 6-year period to a tertiary center were retrospectively analyzed.

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  • Brugada syndrome (BrS) is a hereditary heart condition that raises the risk of sudden cardiac death due to dangerous heart rhythms, and catheter ablation can help reduce these risks by targeting specific areas in the heart.
  • A 66-year-old male with BrS underwent a unique catheter ablation procedure using automated frequency mapping to locate and treat problematic heart regions, showing a significant reduction in dangerous heart abnormalities.
  • Follow-up results indicated successful outcomes with normalized ECG and no further occurrences of ventricular arrhythmias, highlighting the effectiveness of this automated mapping and ablation strategy.
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  • * AAs were the first symptom of IAS in 52% of patients, and nearly a quarter had multiple AAs documented.
  • * The study found a moderate incidence of severe outcomes, including a yearly primary endpoint rate of 1.4%, with younger patients experiencing higher risks and other complications affecting some patients as well.
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  • Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden death in young adults, particularly prevalent in Southeast Asia, with certain genetic variants associated with the condition.
  • Researchers conducted genome sequencing on individuals with BrS and matched controls in Thailand to find rare noncoding variants that are more common in BrS patients.
  • A specific rare variant was identified that disrupts a transcription factor binding site, causing reduced gene expression and reduced sodium current in heart cells, contributing to the high prevalence of BrS in the region and identifying at-risk individuals.
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  • The EHRA survey aimed to assess the current practices and accessibility of genetic testing for cardiac diseases across Europe, highlighting the increase in clinical indications in recent years.
  • From 357 respondents across 69 countries, 39% reported no genetic testing or a low annual rate, with 78% facing limitations in access due to factors like lack of dedicated units and reimbursement issues.
  • The survey emphasized the importance of genetic counseling and recommended cascade testing for family members, revealing varied perceptions of the value of genetic testing in diagnosis, prognosis, and treatment based on the specific inherited conditions.
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  • The LIVE-LQTS study aimed to investigate whether vigorous exercise increases the risk of ventricular arrhythmias in individuals with congenital long QT syndrome (LQTS) by tracking participants' activity and health events over three years.
  • Among 1,413 participants, 52% engaged in vigorous exercise, and the study found similar rates of serious cardiac events (2.6% in vigorous exercisers vs. 2.7% in non-vigorous) suggesting that vigorous exercise may not significantly increase risk for these individuals.
  • The results had a hazard ratio of 0.97, indicating that vigorous exercisers experienced similar or potentially lower rates of adverse events than those who did not exercise vigorously, providing insight into safe exercise practices for LQ
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  • The study aimed to analyze how Body Mass Index (BMI) and height influence left ventricular (LV) size and structure in healthy elite athletes.
  • The research involved 1857 athletes, divided into three groups based on BMI and height, and used echocardiograms to assess LV measurements.
  • Results indicated that athletes with high BMI had similar LV dimensions but thicker walls and a higher rate of concentric remodeling compared to taller athletes, especially those with larger body surface areas (BSA).
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  • * Autopsies are essential for diagnosing inherited heart conditions, but declining rates and a shortage of skilled pathologists hinder their effectiveness, leading to missed diagnoses and treatment opportunities for families.
  • * The article discusses the importance of autopsy in understanding sudden death, how cardiologists can use autopsy findings, and calls for further research and reforms to enhance autopsy awareness and reduce SCD rates.
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Aims: The relationship between ethnicity and causes of sudden cardiac death (SCD) in athletes is poorly understood.

Objectives: To investigate aetiology of SCD among different ethnicities in a large cohort of athletes.

Methods And Results: Between 1994 and November 2022, 7880 cases of SCD were consecutively referred from all over the United Kingdom to our national cardiac pathology centre; 848 (11%) were athletes.

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Aims: Brugada syndrome (BrS) diagnosis and risk stratification rely on the presence of a spontaneous type 1 (spT1) electrocardiogram (ECG) pattern; however, its spontaneous fluctuations may lead to misdiagnosis and risk underestimation. This study aims to assess the role for repeat high precordial lead (HPL) resting and ambulatory ECG monitoring in identifying a spT1, and evaluate its prognostic role.

Methods And Results: HPL resting and ambulatory monitoring ECGs of BrS subjects were reviewed retrospectively, and the presence of a spT1 associated with ventricular dysrhythmias and sudden cardiac death (SCD).

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Background: Risk stratification in Brugada syndrome (BrS) remains controversial. In this respect, the role of the electrophysiology study (EPS) has been a subject of debate. In some centers, it is common practice to use an implantable loop recorder (ILR) after a negative EPS to help in risk stratification.

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Aims: Previously, we demonstrated that inferolateral mitral annular disjunction (MAD) is more prevalent in patients with idiopathic ventricular fibrillation (IVF) than in healthy controls. In the present study, we advanced the insights into the prevalence and ventricular arrhythmogenicity by inferolateral MAD in an even larger IVF cohort.

Methods And Results: This retrospective multi-centre study included 185 IVF patients [median age 39 (27, 52) years, 40% female].

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Aims: In patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare inherited arrhythmia syndrome, arrhythmic events can be prevented by medication and lifestyle recommendations. In patients who experience breakthrough arrhythmic events, non-adherence plays an essential role. We aimed to investigate the incidence and potential reasons for non-adherence to medication and lifestyle recommendations in a large, international cohort of patients with CPVT.

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Aims: Sudden cardiac death (SCD) may occur in apparently healthy individuals, including athletes. The aim was to investigate the diagnostic role of post-mortem genetic testing, molecular autopsy (MA), in elucidating the cause of SCD in athletes.

Methods And Results: We reviewed a database of 6860 consecutive cases of SCD referred to our specialist cardiac pathology centre.

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Background: Sudden cardiac death (SCD) is relatively common and may occur in apparently healthy individuals. The role of seasonal variation as a risk factor for SCD is poorly understood. The aim of this study was to investigate whether SCD exhibits a predilection for specific seasons.

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