A5019877201- Cardiomyopathy and Myosin Studies
- Congenital Heart Disease Studies
- Cardiac Arrhythmias and Treatments
- Connective tissue disorders research
- Cardiac pacing and defibrillation studies
- Aortic Disease and Treatment Approaches
- Cardiovascular Function and Risk Factors
- Cardiac electrophysiology and arrhythmias
- Cardiac Valve Diseases and Treatments
- Aortic aneurysm repair treatments
- Cardiovascular Effects of Exercise
- Williams Syndrome Research
- Atrial Fibrillation Management and Outcomes
- Congenital heart defects research
- Genetic Neurodegenerative Diseases
- Coronary Artery Anomalies
- Cancer survivorship and care
- Patient-Provider Communication in Healthcare
- Cardiovascular Issues in Pregnancy
- Galectins and Cancer Biology
- Protein Tyrosine Phosphatases
- Antiplatelet Therapy and Cardiovascular Diseases
- Cerebrovascular and Carotid Artery Diseases
- Cardiovascular Syncope and Autonomic Disorders
- Cardiac, Anesthesia and Surgical Outcomes
University College London
2016-2025
Great Ormond Street Hospital
2016-2025
Great Ormond Street Hospital for Children NHS Foundation Trust
2017-2024
Great Ormond Street Hospital Children's Charity
2022
Azienda Sanitaria Unità Locale di Reggio Emilia
2018-2021
Center for Inherited Blood Disorders
2021
Cardiovascular Institute Hospital
2021
Guy's and St Thomas' NHS Foundation Trust
2020
Istituti di Ricovero e Cura a Carattere Scientifico
2019
Outcomes Research Consortium
2017
Irbesartan, a long acting selective angiotensin-1 receptor inhibitor, in Marfan syndrome might reduce aortic dilatation, which is associated with dissection and rupture. We aimed to determine the effects of irbesartan on rate dilatation children adults syndrome.We did placebo-controlled, double-blind randomised trial at 22 centres UK. Individuals aged 6-40 years clinically confirmed were eligible for inclusion. Study participants all given 75 mg open label once daily, then randomly assigned...
Pathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available stratify the risk for events associated with these genes. This study sought compare of first event, specifically aneurysm surgery or an dissection, among 7 HTAD and variant types within each gene. A retrospective cohort probands relatives rare (n = 1,028) was assessed based on gene altered, pathogenic type, sex, proband status, location recruitment. Significant...
Phrenic stimulation (PS) may hinder left ventricular (LV) pacing. We prospectively observed its prevalence in consecutive patients with cardiac resynchronization therapy (CRT) devices.In the years 2003 to 2006, 197 received a CRT device. PS and LV threshold measurements were carried out at implantation 6-month follow-up. reverse remodeling was assessed by echocardiography before lead placement lateral/posterolateral 86% of patients. Both occurred most frequently pacing sites (P<0.001)....
Hypertrophic cardiomyopathy (HCM) is a heritable myocardial disease with age-related penetrance. Current guidelines recommend clinical screening of relatives beginning at 10 years age, but the value this approach has not been systematically evaluated. Anonymized data were collected from children referred for family between 1994 and 2017 after diagnosis HCM in first-degree relative. Of 1198 consecutive (≤18 age) 594 families who underwent serial evaluation (median, 3.5 years; interquartile...
Sudden cardiac death (SCD) is the most common mode of in childhood hypertrophic cardiomyopathy (HCM). The newly developed HCM Risk-Kids model provides clinicians with individualized estimates risk. aim this study was to externally validate a large independent, multi-centre patient cohort.
Up to one-half of childhood sarcomeric hypertrophic cardiomyopathy (HCM) presents before the age 12 years, but this patient group has not been systematically characterized. The aim study was describe clinical presentation and natural history patients presenting with nonsyndromic HCM years. Data from International Paediatric Hypertrophic Cardiomyopathy Consortium on 639 children diagnosed younger than years were collected compared those 568 between 16 At baseline, 339 (53.6%) had family...
<h3>Objective</h3> To compare the effects of cardiac resynchronisation therapy (CRT) on left ventricular (LV) reverse remodelling in patients with dilated cardiomyopathy (DCM) associated or not isolated non-compaction (IVNC). <h3>Methods and results</h3> 52 heart failure, candidates for CRT, were recruited: 20 IVNC DCM (IVNC-DCM) without other coexisting diseases 32 matched age, gender, body surface area LV systolic function. Standard contrast echocardiography used to assess volumes function...
Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed describe the aetiology, phenotype, and outcomes of infantile HCM well-characterized multicentre European cohort.Of 301 children diagnosed between 1987 2019 17 centres [male n = 187 (62.1%)], underlying aetiology was non-syndromic (n 138, 45.6%), RASopathy 101, 33.6%), or inborn error metabolism...
Cardiac resynchronization therapy (CRT) improves functional capacity and survival in heart failure. However, one-third of patients fail to respond CRT. Resting left ventricular (LV) dyssynchrony assessed by echocardiography (ECHO) showed discordant results identifying CRT responders. LV can totally change during exercise. Aim this study was evaluate whether exercise could select responders Sixty-four scheduled for implantation performed bicycle ECHO semi-supine position on an tilting table...
Abstract Aims The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for stratification, but this not independently validated. This aim of study was to describe the phenotype childhood HCM large, international, multi-centre cohort and investigate its role prediction arrhythmic events. Methods results Data from 356 patients mean age 10.1 years (±4.5) were collected retrospective,...
Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of hypertrophy has nonlinear relationship with SCD, but it not known whether same complex seen childhood. The aim this study was to describe between and SCD large international pediatric HCM cohort. Methods: cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed (1–16 years) from International Paediatric...
To ascertain incidence and predictors of new permanent pacemaker (PPM) following transcatheter aortic valve implantation (TAVI) with the self-expanding bioprosthesis.TAVI Medtronic Corevalve (MCV) Revalving System (Medtronic, Minneapolis, MN) has been associated important post-procedural conduction abnormalities frequent need for PPM.Overall, 73 consecutive patients severe symptomatic AS underwent TAVI MCV at two institutions; 10 previous 3 replacement were excluded this analysis. Clinical,...
Objective Hypertrophic cardiomyopathy (HCM) is an important predictor of long-term outcomes in Friedreich’s ataxia (FA), but the clinical spectrum and survival childhood poorly described. This study aimed to describe characteristics children with FA-HCM. Design setting Retrospective, longitudinal cohort FA-HCM from UK. Patients 78 (<18 years) diagnosed over four decades. Intervention Anonymised retrospective demographic data were collected baseline evaluation follow-up. Main outcome...
Abstract Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility generalised severe friability can lead to clinical events from childhood. We highlight paucity of literature regarding children diagnosed with vEDS, possibly explained restraint in predictive testing, present data on 63 individuals (23 index cases) genetic diagnosis vEDS childhood (<18 years)...
Background Variants in the cardiac myosin-binding protein C gene ( MYBPC3 ) are a common cause of hypertrophic cardiomyopathy (HCM) adults and have been associated with late-onset disease, but there limited data on their role paediatric-onset HCM. The objective this study was to describe natural history clinical outcomes large cohort children HCM pathogenic/likely pathogenic (P/LP) variants. Methods results Longitudinal from 62 consecutive patients diagnosed under 18 years age carrying at...
Heritable thoracic aortic diseases (HTAD), typically entailing complications, can be caused by pathogenic variants or likely (PV/LPVs) in several genes, including fibrillin1 (FBN1), Actin Alpha2 (ACTA2) and genes encoding components of the transforming growth factor (TGF)-β signaling pathway. In addition to non-aortic cardiac disease such as impaired myocardial function and/or arrhythmia have been increasingly reported, mainly Marfan syndrome with underlying FBN1 PV/LPVs are acknowledged...