A5102891756- Cardiomyopathy and Myosin Studies
- Mechanical Circulatory Support Devices
- Heart Failure Treatment and Management
- Cardiac pacing and defibrillation studies
- Cardiac Structural Anomalies and Repair
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Congenital heart defects research
- Cardiovascular Function and Risk Factors
- Cardiac Arrest and Resuscitation
- Cardiovascular Effects of Exercise
- Trypanosoma species research and implications
- Neurological disorders and treatments
- Cardiac Arrhythmias and Treatments
- Muscle Physiology and Disorders
- Congenital Heart Disease Studies
- Pharmaceutical studies and practices
- Viral Infections and Immunology Research
- Transplantation: Methods and Outcomes
- Cardiac electrophysiology and arrhythmias
- Electrolyte and hormonal disorders
- Williams Syndrome Research
- Ion channel regulation and function
Hospital for Sick Children
2012-2024
University of Toronto
2012-2024
SickKids Foundation
2012-2023
Toronto Public Health
2016
Current guidelines recommend initiating family screening for hypertrophic cardiomyopathy (HCM) after age 10 or 12 years unless early criteria are met. The aim was to evaluate if current miss onset disease.Children who underwent HCM before 18 were analysed. Major cardiac events (MaCEs) defined as death, sudden death (SCD), need major interventions (myectomy, implantable cardioverter-defibrillator insertion, transplantation). Of 524 children screened, 331 under of age, 9.9% had...
Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life‐threatening events. We assessed if affected gene variant burden predict outcomes. Patients <18 years old primary HCM a pathogenic or of uncertain significance in genes were included. Association number type freedom from major adverse events (MACE), that is, ICD insertion, myectomy, aborted SCD, transplantation death, was by Cox regression. A total 98 155 gene‐tested patients carried...
Background For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted specific a CMP phenotype or expanded (panCMP) that include genes associated with multiple phenotypic subtypes. Aim Our objective was assess the utility versus panCMP panel in pediatric CMPs. Methods 151 patients primary hypertrophic ( n = 66), dilated 64), restrictive 8), left‐ventricular non‐compaction 13) who underwent at single centre were included. PanCMP...
Abstract Predictors of myocardial recovery in heart failure (HF) are poorly understood. We explored if vinculin ( VCL ) variants associated with dilated cardiomyopathy (DCM). Six infants DCM a loss-of-function (LOF) variant were identified. Median age at diagnosis was 2 months, median LV ejection fraction 24%, and end-diastolic diameter z -score 10.8. All patients received HF medications. Five (83%) showed normalization function 2.7 years. One patient progressed to end-stage requiring...
Objective: To determine how mobility device use impacts quality of life in children with Friedreich ataxia. Study Design: Data from 111 pediatric patients genetically confirmed ataxia were collected a prospective natural history study utilizing standardized clinical evaluations, including health-related using the Pediatric Quality Life Inventory (PedsQL) 4.0 Generic Core Module. Results: Mobility was associated worse mean PedsQL total, physical, emotional, social, and academic subscores,...
Children with restrictive cardiomyopathy (RCM) traditionally have a poor prognosis, most patients either dying or requiring heart transplantation within 2 years of diagnosis. The development symptoms in RCM suggests advanced disease. However, as screening practices evolve and lead to diagnosis early disease, identifying appropriate timing transplant listing becomes increasingly important. In this context we compared outcomes children presenting clinical those asymptomatic at initial...
Abstract Children with restrictive cardiomyopathy (RCM) traditionally have a poor prognosis, most patients either dying or requiring heart transplantation within 2 years of diagnosis. The development symptoms in RCM suggests advanced disease, however no study has directly compared outcomes these based on at time purpose this retrospective cohort was to compare children presenting those without symptoms. Times transplantation, death, and composite outcome adverse cardiac events (CPR,...
Introduction: Ventricular Assist Device (VAD) explantation following myocardial functional recovery (MFR) for heart failure (HF) is uncommon and associated with a risk of recurrence HF. Research Question: What are the patient characteristics outcomes VAD in children MFR? Methods: Retrospective, single centre study patients who were supported durable VADs, both intracorporeal continuous flow devices (CFD) paracorporeal pulsatile (PFD) between 2004 to 2022. Results: A total 75 children, which...