A5063872548- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Cardiovascular Function and Risk Factors
- Cardiovascular Disease and Adiposity
- Cardiac Imaging and Diagnostics
- Cardiac electrophysiology and arrhythmias
- Trypanosoma species research and implications
- Viral Infections and Immunology Research
- Lysosomal Storage Disorders Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Cardiac Arrhythmias and Treatments
- Atrial Fibrillation Management and Outcomes
- Genomics and Rare Diseases
- RNA Research and Splicing
- Metabolism and Genetic Disorders
- Cardiovascular and exercise physiology
- Mitochondrial Function and Pathology
- Peptidase Inhibition and Analysis
- Exercise and Physiological Responses
- Coronary Artery Anomalies
- Genetic Neurodegenerative Diseases
- Non-Invasive Vital Sign Monitoring
- Neurogenetic and Muscular Disorders Research
- Nuclear Structure and Function
- Studies on Chitinases and Chitosanases
University College London
2022-2025
St Bartholomew's Hospital
2021-2025
British Heart Foundation
2021-2024
St George's, University of London
2023-2024
Genomics (United Kingdom)
2024
St George’s University Hospitals NHS Foundation Trust
2023-2024
National Health Service
2024
Barts Health NHS Trust
2022-2023
Evangelismos Hospital
2015-2018
Onassis Cardiac Surgery Center
2018
Abstract Aims To study the impact of genotype on performance 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The cohort comprised 554 patients with a definite diagnosis ARVC no history sustained arrhythmia (VA). During median follow-up 6.0 (3.1,12.5) years, 100 (18%) experienced primary VA outcome (sustained tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or death) corresponding to an...
In hypertrophic cardiomyopathy (HCM), myocyte disarray and microvascular disease (MVD) have been implicated in adverse events, recent evidence suggests that these may occur early. As novel therapy provides promise for modification, detection of phenotype development is an emerging priority. To evaluate their utility as early disease-specific biomarkers, we measured myocardial microstructure MVD 3 HCM groups-overt, either genotype-positive (G+LVH+) or genotype-negative (G-LVH+), subclinical...
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease defined by increased left ventricular wall thickness unexplained loading conditions. It frequently caused pathogenic variants in sarcomeric protein genes, but several other syndromic, metabolic, infiltrative, and neuromuscular diseases can result HCM phenocopies. This review summarizes the current understanding of these mimics, highlighting their importance across life course. The central role comprehensive, multiparametric...
Background Left ventricular hypertrophy (LVH) is the principal cardiac manifestation of Fabry disease (FD). This study aimed to determine incidence and predictors LVH development in a contemporary cohort patients with FD no at baseline evaluation. Methods Consecutively referred adult (aged ≥16 years) were enrolled into an observational study. Patients prospectively followed specialist cardiomyopathy centre primary endpoint was first detection (left mass index (LVMi) ≥115 g/m 2 men ≥95...
Variants in
Abstract Background and Aims Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) LMNA (EDMD2). Cardiac conduction defects atrial arrhythmia are common to both, but also cause end-stage heart failure (ESHF) malignant ventricular (MVA). This study aimed better characterize the cardiac complications of variants. Methods Consecutively referred variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA ESHF incidences male female...
Objective Transthyretin amyloid cardiomyopathy (ATTR-CM) is an infiltrative cardiac disorder caused by deposition of wild type or mutated transthyretin. As ATTR-CM associated with conduction disease, we sought to determine its prevalence in patients idiopathic high-degree atrioventricular (AV) block requiring permanent pacemaker (PPM) implantation. Methods Consecutive aged 70–85 years undergoing PPM implantation for AV between November 2019 and 2021 were offered a...
<h3>Background</h3> Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is an infiltrative cardiac disorder caused by deposition of wild type or mutated transthyretin and which amenable to therapy with TTR stabilisers. As ATTR-CM associated conduction disease, we sought determine its prevalence in patients idiopathic high-degree atrioventricular (AV) block requiring permanent pacemaker (PPM) implantation. <h3>Methods</h3> Consecutive aged 70-85 years undergoing PPM implantation for AV between...
Abstract Background Genetic testing of patients with dilated cardiomyopathy (DCM) results in identification a causative gene variant around 19-37% individuals [1]. Serial clinical assessment relatives found to carry genetic variants is recommended, but there are no data guide screening intervals or better understand the influence age, sex and genotype on disease expression. Purpose To evaluate trajectory development clinically unaffected positive test. Methods Families likely pathogenic DCM...
Abstract Background/Introduction Hypertrophic cardiomyopathy (HCM) is a myocardial disease associated with progression to heart failure. In around 40% of cases, the caused by variants in genes encoding sarcomere proteins. Purpose To evaluate role genotype predicting failure (HF) outcomes. Methods this observational single-centre cohort study, consecutive patients HCM were assessed for clinically stratified genetic status into genotype-elusive which included those no significant (G-) or...
Abstract Background Recent studies have shown the promise of new approaches to management hypertrophic cardiomyopathy (HCM) symptoms. However, as HCM is a chronic disorder that evolves slowly over decades with low annual event rates, therapeutic trials in disease rely on surrogate measures severity and progression rather than hard endpoints such mortality. Exercise capacity one potential endpoint. Purpose To examine relationship between peak oxygen uptake (VO2) six-minute walk test distance...