- Cardiomyopathy and Myosin Studies
- Cardiac Arrhythmias and Treatments
- Cardiovascular Function and Risk Factors
- Cardiac pacing and defibrillation studies
- Viral Infections and Immunology Research
- Cardiac Structural Anomalies and Repair
- Congenital Heart Disease Studies
- Pituitary Gland Disorders and Treatments
- Diabetes and associated disorders
- Adrenal Hormones and Disorders
- Pericarditis and Cardiac Tamponade
- Cardiac electrophysiology and arrhythmias
- Eosinophilic Disorders and Syndromes
- Cardiovascular Issues in Pregnancy
- Atrial Fibrillation Management and Outcomes
Copenhagen University Hospital
2022-2025
Rigshospitalet
2022-2025
Background Treatment with implantable cardioverter-defibrillators (ICDs) effectively prevents sudden cardiac death (SCD) in patients hypertrophic cardiomyopathy (HCM). Identifying most likely to benefit from a primary prevention ICD remains challenging. We aimed investigate the long-term incidence of therapy HCM according SCD-risk at baseline. Methods The study retrospectively included all treated an for or secondary between 1995 and 2022 Eastern Denmark. Medical records each patient were...
Abstract Background and Aims Familial ST-depression syndrome (FSTD) is a recently identified inherited cardiac disease associated with arrhythmias systolic dysfunction. The underlying genetic aetiology has remained elusive. This study aimed at finding the causative variant. Methods A total of 67 FSTD patients (20 families) were studied. Linkage analysis whole-genome sequencing (WGS) initially performed. An non-coding variant was functionally characterized in AC16 human cardiomyocytes, muscle...
Background: Hypertrophic cardiomyopathy (HCM) is a complex disease with variable clinical presentation and familial impact. Age at diagnosis may influence phenotypic expression, but it unclear if age also affects outcomes, genetic findings, yield of family screening. Methods: Retrospective cohort study families screened for HCM in Eastern Denmark (2006-2023). Probands were analyzed by both continuously quartiles: 18-45, 46-56, 57-65, >65 years. Results: 612 probands (62% male, median 56...
Abstract Background Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder, often with monogenic inheritance and accordingly, familial aggregation of HCM common. International guidelines recommend family screening relatives patients to allow pre-symptomatic identification early interventions. The clinical genetic yield implemented programs have been scarcely described might improve by adjustments. We hypothesized that can be improved. Purpose To assess the in at first visit....
Abstract Background Treatment with implantable cardioverter-defibrillators (ICD) is effective for prevention of sudden cardiac death (SCD) in patients hypertrophic cardiomyopathy (HCM). Assessment SCD risk and identification most likely to benefit from primary ICD challenging. Purpose To investigate the long-term incidence appropriate inappropriate therapy HCM. Methods This was a retrospective cohort study including all HCM ICDs implanted between 1995 2022 our region (population 2.6...