A5002570612- Cardiovascular Effects of Exercise
- Sports injuries and prevention
- Cardiac electrophysiology and arrhythmias
- Cardiac Arrest and Resuscitation
- Gun Ownership and Violence Research
- Cardiac Arrhythmias and Treatments
- Cardiomyopathy and Myosin Studies
- Viral Infections and Immunology Research
- Cardiac pacing and defibrillation studies
- Cardiac, Anesthesia and Surgical Outcomes
- Atrial Fibrillation Management and Outcomes
- Parathyroid Disorders and Treatments
- Trypanosoma species research and implications
- Cardiovascular Function and Risk Factors
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Health Systems, Economic Evaluations, Quality of Life
- Genetics and Physical Performance
- Health and Medical Research Impacts
- RNA and protein synthesis mechanisms
University Medical Center Utrecht
2016-2025
ERN GUARD-Heart
2024-2025
Netherlands Heart Institute
2017-2025
Utrecht University
2012-2024
Heidelberg University
2019
University Hospital Heidelberg
2019
Johns Hopkins University
2013-2017
Johns Hopkins Medicine
2013-2016
Johns Hopkins Hospital
2015-2016
Zero to Three
2015
We sought to determine the influence of genotype on clinical course and arrhythmic outcome among arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated mutation carriers.Pathogenic mutations in desmosomal non-desmosomal genes were identified 577 patients (241 families) from USA Dutch ARVD/C cohorts. Patients with sudden cardiac death (SCD)/ventricular fibrillation (VF) at presentation (n = 36) younger (median 23 vs. 36 years; P < 0.001) than those presenting sustained...
Background Exercise is associated with age‐related penetrance and arrhythmic risk in carriers of arrhythmogenic right ventricular dysplasia/cardiomyopathy ( ARVD /C)‐associated desmosomal mutations; however, its role patients without mutations (gene‐elusive) uncertain. This study investigates whether exercise (1) onset gene‐elusive /C (2) has a differential impact patients. Methods Results Eighty‐two (39 desmosomal, all probands) were interviewed about regular physical activity from age 10....
ARVD/C: The Triangle of Dysplasia Displaced Introduction traditional description the in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) predates genetic testing and excludes biventricular phenotypes. Methods Results We analyzed Cardiac Magnetic Resonance (CMR) studies 74 mutation‐positive ARVD/C patients for regional abnormalities on a 5‐segment RV 17‐segment LV model. location electroanatomic endo‐ epicardial scar site successful VT ablation was recorded 11 subjects....
Background— Cardiac sarcoidosis (CS) may show overlap in the clinical presentation with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). We sought to investigate patients CS who were misdiagnosed ARVD/C and identify features distinguish these 2 groups. Methods Results— Among enrolled Johns Hopkins registry, 15 definite 2010 diagnostic criteria for subsequently diagnosed CS. Forty-two pathogenic desmosomal mutation carriers based on served as a control group. Patients older...
Abstract Background and Aims Pathogenic variants in the desmoplakin (DSP) gene are associated with development of a distinct arrhythmogenic cardiomyopathy phenotype not fully captured by either dilated (DCM), non-dilated left ventricular (NDLVC), or right (ARVC). Prior studies have described baseline DSP genetic, inflammatory, structural characteristics. However, cohort sizes limited full clinical characterization identification demographic predictors sustained arrhythmias (VAs), heart...
A combination of variable expression, age-related penetrance, and unpredictable arrhythmic events complicates management relatives arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. We aimed to (i) determine predictors ARVD/C diagnosis (ii) optimize risk stratification among first-degree patients.Detailed phenotypic outcome data 274 (46% male; 36.5 ± 18.9 years) 138 probands were obtained. Ninety-six (35%) diagnosed with according 2010 Task Force Criteria (TFC)....
Regional right ventricular (RV) dysfunction is the hallmark of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), but currently only qualitatively evaluated in clinical setting. Feature Tracking Cardiovascular Magnetic Resonance (FT-CMR) a novel quantitative method that uses cine CMR to calculate strain values. However, most prior FT-CMR studies ARVD/C have focused on global RV using different software methods, complicating implementation practice. We aimed assess value and...
Considerable research has described the arrhythmic course of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). However, objective data characterizing structural progression, such as enlargement and cardiac dysfunction, in ARVD/C are relatively scarce.To define extent identify determinants determine association between progression electrocardiographic (ECG) changes patients with ARVD/C.In this cohort study, first- last-available echocardiograms 85 fulfilling 2010 Task Force...
The clinical profile of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients with late presentation is unknown.The purpose this study was to characterize the genotype, cardiac phenotype, and long-term outcomes ARVC/D (age ≥50 years at diagnosis).Five hundred two an diagnosis from Johns Hopkins Utrecht Registries were studied ascertained.Late seen in 104 (21%; 38% PKP2 carriers); 3% ≥65 diagnosis. Sustained tachycardia major (43%) mode presentation, whereas syncope...
Importance Filamin C truncating variants (FLNCtv) are a rare cause of cardiomyopathy with heterogeneous phenotypic presentations. Despite high incidence life-threatening ventricular arrhythmias and sudden cardiac death (SCD), reliable risk predictors to stratify carriers FLNCtv lacking. Objective To determine factors predictive SCD/major (MVA) in FLNCtv. Design, Setting, Participants This was an international, multicenter, retrospective cohort study conducted from February 2023 June 2024....
Background Analysis of regional wall motion the right ventricle (RV) is primarily qualitative with large interobserver variation in clinical practice. Thus, purpose this study was to use feature tracking analyze abnormalities patients arrhythmogenic ventricular cardiomyopathy (ARVC). Methods We enrolled 110 subjects (39 overt ARVC [mutation+/phenotype+] (35.5%), 40 preclinical [mutation+/phenotype–] (36.3%), and 31 control (28.2%)). Cine steady state free precession cardiac MR performed...
Left ventricular (LV) fibrofatty infiltration in arrhythmogenic right (RV) dysplasia/cardiomyopathy (ARVD/C) has been reported, however, detailed cardiovascular magnetic resonance (CMR) characteristics and association with outcomes are uncertain. We aim to describe LV findings on CMR ARVD/C patients their relationship arrhythmic outcomes. of 73 subjects according the 2010 Task Force Criteria (TFC) were analyzed for involvement, defined as ≥ 1 following features: wall motion abnormality, late...