A5063465345- Cardiac electrophysiology and arrhythmias
- Cardiac Arrhythmias and Treatments
- Cardiovascular Effects of Exercise
- Cardiomyopathy and Myosin Studies
- Cardiac pacing and defibrillation studies
- Atrial Fibrillation Management and Outcomes
- Viral Infections and Immunology Research
- Ion channel regulation and function
- Cardiac Arrest and Resuscitation
- Sports injuries and prevention
- Cardiac Valve Diseases and Treatments
- Acute Myocardial Infarction Research
- Cardiovascular Function and Risk Factors
- Cardiovascular Syncope and Autonomic Disorders
- Congenital heart defects research
- Epilepsy research and treatment
- Skin and Cellular Biology Research
- Cardiac Structural Anomalies and Repair
- Venous Thromboembolism Diagnosis and Management
- Nuclear Structure and Function
- ECG Monitoring and Analysis
- Genomics and Rare Diseases
- Williams Syndrome Research
- Cardiac tumors and thrombi
- Neurological disorders and treatments
Johns Hopkins Medicine
2023-2025
Johns Hopkins University
2023-2025
University of Bern
2017-2024
University Hospital of Bern
2017-2024
Johns Hopkins Hospital
2024
Medical University of Vienna
2020-2022
WellSpan Health
2021
Yerevan State Medical University
2018-2019
University of Milan
2018
University of Copenhagen
2018
Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular has a signature genetic theme. Hypertrophic are largely understood diseases sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing complex diverse architecture. To clarify this, systematic curation evidence to establish relationship with DCM was conducted.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by arrhythmias and progressive dysfunction. Genetic testing recommended, a pathogenic variant in ARVC-associated gene major criterion for diagnosis according to the 2010 Task Force Criteria. As incorrect attribution of ARVC can contribute misdiagnosis, we assembled international multidisciplinary Clinical Genome Resource Gene Curation Expert Panel reappraise all reported genes.Following comprehensive...
Arrhythmogenic cardiomyopathy (ACM) is a primary disease of the myocardium, predominantly caused by genetic defects in proteins cardiac intercalated disc, particularly, desmosomes. Transmission mostly autosomal dominant with incomplete penetrance. ACM also has wide phenotype variability, ranging from premature ventricular contractions to sudden death and heart failure. Among other drivers modulators phenotype, inflammation response viral infection immune triggers have been postulated be an...
Background: There is a paucity of data regarding the phenotype dilated cardiomyopathy (DCM) gene variants in general population. We aimed to determine frequency and penetrance DCM-associated putative pathogenic adult population, with focus on expression clinical subclinical phenotype, including structural, functional, arrhythmic disease features. Methods: UK Biobank participants who had undergone whole exome sequencing, ECG, cardiovascular magnetic resonance imaging were selected for study....
Sodium-glucose cotransporter 2 inhibitors (SGLT2i) improve clinical outcomes in heart failure patients with reduced and preserved left ventricular ejection fraction (LVEF), but have not yet been investigated transthyretin amyloid cardiomyopathy (ATTR-CM). This study aimed to evaluate tolerability, outcomes, changes NT-proBNP levels glomerular filtration rate (GFR) ATTR-CM treated dapagliflozin.
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings. Methods We analyse evidence inheritance patterns, allelic requirement, disease mechanism and disease-relevant classes 65 ClinGen-curated ICC gene-disease pairs. present this...
To validate the performance of a multipolar pulsed-field ablation (PFA) catheter compared to standard pentaspline 3D-mapping for endpoint assessment pulmonary vein isolation (PVI). PFA PVI using single-shot devices combines benefits high procedural efficacy and safety. A newly available allows real-time recording (PV) signals during PVI.Patients undergoing first with protocol (eight applications per PV) were studied. Entrance exit block (10 V/2 ms) assessed catheter. Subsequently,...
Genetic testing has become standard of care for patients with long QT syndrome (LQTS), providing diagnostic, prognostic, and therapeutic information both probands their family members. However, up to a quarter LQTS do not have identifiable Mendelian pathogenic variants in the currently known LQTS-associated genes. This absence genetic confirmation, intriguingly, does lessen severity LQTS, prognosis these gene-elusive unequivocal mirroring genotype-positive limited data available. Such...
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise clinical validity previously new putative HCM genes. Methods: The gene curation framework was used...
Sex-related differences in prevalence, clinical presentation, and outcome of cardiac channelopathies are increasingly recognized, despite their autosomal transmission hence equal genetic predisposition among sexes. In congenital long-QT syndrome, adult women carry a greater risk for Torsades de pointes sudden death than do men. contrast, Brugada syndrome is observed predominantly men, with considerably higher arrhythmic men women. both conditions, the arrhythmias varies age. Sex-associated...
We describe our initial experience using a multipolar pulsed-field ablation catheter for the treatment of left atrial (LA) reentry tachycardia.We included all patients with LA tachycardia treated PFA at institution between September 2021 and March 2022. The mechanism was identified 3D electro-anatomical mapping (3D-EAM). Subsequently, roof line, anterior or mitral isthmus line ablated as appropriate. Roof always combined posterior wall (LAPW) ablation. Positioning guided by 3D-EAM system...
ALPK3 encodes the protein alpha-kinase 3, an essential cardiac-enriched atypical a-kinase that inserts in nuclear envelope and sarcomere M-band of cardiac myocytes, functioning to aid myosin-mediated force buffering proteostasis. Previously, bi-allelic loss-of-function variants have been reported causative a severe paediatric phenotype including hypertrophic (HCM) dilated cardiomyopathy (DCM). Very few heterozygous carries these cases express any phenotype. However, recently studies HCM. In...