Gabrielle Norrish
A5013450480- Cardiomyopathy and Myosin Studies
- Congenital Heart Disease Studies
- Cardiovascular Function and Risk Factors
- Cardiac Arrhythmias and Treatments
- Coronary Artery Anomalies
- Cardiovascular Effects of Exercise
- Protein Tyrosine Phosphatases
- Cardiac electrophysiology and arrhythmias
- Galectins and Cancer Biology
- Congenital heart defects research
- Williams Syndrome Research
- Genetic Neurodegenerative Diseases
- Viral Infections and Immunology Research
- Mitochondrial Function and Pathology
- Cardiac pacing and defibrillation studies
- Trypanosoma species research and implications
- Cardiac Arrest and Resuscitation
- Peptidase Inhibition and Analysis
- Ion channel regulation and function
- HIV/AIDS Research and Interventions
- Lysosomal Storage Disorders Research
- Listeria monocytogenes in Food Safety
- Protein Kinase Regulation and GTPase Signaling
- Hemodynamic Monitoring and Therapy
- ECG Monitoring and Analysis
University College London
2015-2024
Great Ormond Street Hospital
2016-2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2021-2024
European Society of Cardiology
2024
Associazione Nazionale Medici Cardiologi Ospedalieri
2024
Great Ormond Street Hospital Children's Charity
2022
Cardiovascular Institute Hospital
2020-2021
Center for Inherited Blood Disorders
2021
ERN GUARD-Heart
2019
The Royal Free Hospital
2015
Sudden cardiac death (SCD) is the most common mode of in childhood hypertrophic cardiomyopathy (HCM), but there no validated algorithm to identify those at highest risk.
Abstract Aims Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1–3) that encode identical calmodulin proteins. We established International Calmodulinopathy Registry (ICalmR) to understand natural history, clinical features, response therapy patients with a CALM-mediated syndrome. Methods results A dedicated Case Report File was created collect demographic, clinical, genetic...
Predictive genetic screening of relatives patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard care, but there are few data on long-term outcomes in mutation carriers without HCM.The aim this study was to determine the incidence new HCM diagnosis SP carriers.This a retrospective analysis adult and pediatric identified during family who did not fulfill diagnostic criteria for at first evaluation.The authors evaluated 285...
Understanding the spectrum of disease, symptom burden and natural history are essential for management children with hypertrophic cardiomyopathy (HCM). The effect changing screening practices over time has not previously been studied. This study describes clinical characteristics outcomes childhood HCM four decades in a well-characterized United Kingdom cohort. Six hundred eighty-seven patients presented at median age 5.2 years (range 0–16). Aetiology was: non-syndromic (n = 433, 63%),...
Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics 1-year follow-up of children with cardiomyopathy in first European Cardiomyopathy Registry.
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...
We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome multiple lentigines hypertrophic cardiomyopathy.
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...
Abstract Aims This study aimed to describe the natural history and predictors of all‐cause mortality sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome hypertrophic cardiomyopathy (HCM). Methods results is retrospective cohort from 14 paediatric cardiology centres United Kingdom Ireland. We included <18 years HCM clinical and/or genetic diagnosis [Noonan (NS), NS multiple lentigines (NSML), Costello (CS), cardiofaciocutaneous (CFCS), loose anagen hair...
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...
There is an unmet medical need to treat patients with severe hypertrophic cardiomyopathy leading heart failure and death in children carrying pathogenic activating variants the RAS/mitogen-activated protein kinase pathway. A retrospective analysis of 61 provides evidence for decreased mortality morbidity improved cardiac status RASopathy receiving mitogen-activated inhibition (n = 30) vs those standard-of-care treatment 31). Side effects were not life threatening manageable. The data...
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...
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...
Up to 20% of children with sarcomeric hypertrophic cardiomyopathy (HCM) have disease-causing variants in genes coding for thin-filament proteins. However, data on genotype-phenotype correlations disease are limited. This study describes the natural history and outcomes thin-filament-associated HCM compares it thick-filament-associated disease. Longitudinal were collected from 40 under 18 years a variant protein single quaternary referral centre. Twenty-one (female n=6, 35.5%) diagnosed at...
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is defined clinically by pathological left ventricular hypertrophy. We have previously developed a plasma proteomics biomarker panel that correlates with clinical markers of disease severity and sudden cardiac death risk in adult patients HCM. The aim this study was to investigate the utility biomarkers perform new discoveries for childhood-onset METHODS: Fifty-nine protein were identified from an exploratory screen children HCM augmented into...
Abstract Background Sudden cardiac death (SCD) is the most common mode of in childhood hypertrophic cardiomyopathy (HCM) but there no validated algorithm to identify those at highest risk. This study sought develop and validate a SCD risk prediction model that provides individualized estimates. Methods A prognostic was derived from an international, retrospective, multi-center longitudinal cohort 1024 consecutively evaluated patients aged ≤16 years. The developed using pre-selected predictor...