A5049547536- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Cardiac pacing and defibrillation studies
- Cardiovascular Effects of Exercise
- ECG Monitoring and Analysis
- Cardiac Arrhythmias and Treatments
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- Receptor Mechanisms and Signaling
- Williams Syndrome Research
- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Genetic Neurodegenerative Diseases
- Cardiac Arrest and Resuscitation
- Medication Adherence and Compliance
- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- Nicotinic Acetylcholine Receptors Study
- Restraint-Related Deaths
- Cardiovascular and exercise physiology
- Forensic Entomology and Diptera Studies
- Antiplatelet Therapy and Cardiovascular Diseases
Boston University
2025
University of Auckland
2009-2024
Starship Children's Health
2013-2022
Greenlane Clinical Centre
2007-2021
North Shore Hospital
2020
Saskatoon Medical Imaging
2018
Auckland City Hospital
2007-2017
Brock University
2017
Boston Children's Hospital
2015
Center for Inherited Blood Disorders
2014
Sudden cardiac death among children and young adults is a devastating event. We performed prospective, population-based, clinical genetic study of sudden adults.
Sudden arrhythmic death syndrome (SADS) describes a sudden with negative autopsy and toxicological analysis. Cardiac genetic disease is likely etiology.
Background— Left cardiac sympathetic denervation reduces risk in long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia. Side effects patient satisfaction have not been systematically analyzed patients who underwent left denervation. Aims of this study included documenting physical psychological consequences after LQTS or Methods Results— Patients with (N=40) tachycardia (N=7) video-assisted thoracoscopic denervation, a median follow-up 29 months (range, 1–67...
Fever can precipitate ventricular tachycardia in adults with Brugada syndrome, but such a link has not been reported children. A 21-month-old white girl presented repeatedly decreased conscious level and seizures during fever. During typical episode, rapid was documented. The resting 12-lead electrocardiogram revealed signature. Resting electrocardiograms of the asymptomatic brother mother were normal, fever pharmacologic stress ajmaline features. Genetic testing an SCN5A mutation affected...
Background— Inherited long-QT syndrome is characterized by prolonged QT interval on the ECG, syncope, and sudden death caused ventricular arrhythmia. Causative mutations occur mostly in cardiac potassium sodium channel subunit genes. Confidence mutation pathogenicity usually reached through family genotype-phenotype tracking, control population studies, molecular modeling, phylogenetic alignments; however, biophysical testing offers a higher degree of validating evidence. Methods Results— By...
To describe experience of long QT (LQT) molecular autopsy in sudden infant death syndrome (SIDS).Descriptive audit from two distinct periods: (1) A prospective, population-based series between 2006 and 2008 ('unselected'). (2) Before after 2006-2008, with testing guided by a cardiac genetic service ('selected'). LQT genes 1, 2, 3, 5, 6 7 were sequenced. Next kin offered evaluation.New Zealand.102 SIDS cases.Nil. Main outcome measures Detection variants.Maori 49 (47%), Pacific island 24...
Parkinson’s disease is the second most prevalent neurodegenerative disorder with over ten million active cases worldwide and one new diagnoses per year. Detecting subsequently diagnosing challenging because of symptom heterogeneity respect to complexity, as well type timing phenotypic manifestations. Typically, language impairment can present in prodromal phase precede motor symptoms suggesting that a linguistic-based approach could serve diagnostic method for incipient disease....
Objectives ‘Idiopathic’ cardiac conditions such as dilated cardiomyopathy (DCM) and resuscitated sudden death (RSCD) may be familial. We suspected that inpatient cardiology services fail to recognise this. Our objective was compare diagnostic value of family histories recorded by teams with a multigenerational tree obtained specially trained allied professionals. Methods 2 experienced nurses working in tertiary adult units were cardiac-inherited diseases history (FHx) taking, established...
BACKGROUND: Aotearoa/New Zealand has a multiethnic population. Patients with hypertrophic cardiomyopathy (HCM) are enrolled in the national Cardiac Inherited Diseases Registry New Zealand. Here, we report characteristics of HCM probands and without pathogenic or likely (P/LP) genetic variants for HCM, assess testing yield variant spectrum by self-identified ethnicity. METHODS: Probands who have undergone clinical over 17-year period were included. Clinical data, family history, test results...
Background To review long QT syndrome molecular autopsy results in sudden unexplained death young (SUDY) between 2006 and 2013 New Zealand. Methods Audit of the LQTS results, cardiac investigations family screening data from gene-positive families. Results During study period, 365 SUDY cases were referred for autopsy. 128 (35%) underwent genetic testing. 31 likely pathogenic variants identified 27 (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1...
Background— Long-term uninterrupted β-blockade significantly reduces cardiac events in long QT syndrome (LQTS). Despite this, data on nonadherence are scarce and quantified only the day of arrest LQTS literature. We aimed to describe β-blocker adherence, predictors thereof, among patients with types 1 2. Methods Results— Electronic health records pharmacy dispensing were reviewed for 90 2 who reside Auckland, New Zealand, during a 34-month period. For each patient, medication possession...
Long QT syndrome (LQTS) occurs in about 1 2500 of the general population.1 Of 12 genotypes, LQTS type is most common and classically associated with exercise-related events, especially swimming,2 interval prolongs Epinephrine infusion3 after exercise.4 Mutations are KCNQ1 cardiac potassium channel IKs defective, such that action potential prolonged.5 6 first 388 index cases at Mayo clinic, 28 (11%) had a history swimming triggered events; 85% these were due to 1, 6% 2 3% genotype...
Sudden unexpected nocturnal death among patients with diabetes occurs approximately ten times more commonly than in the general population. Malignant ventricular arrhythmia due to Brugada syndrome has been postulated as a cause, since glucose-insulin bolus can unmask electrocardiographic signature genetically predisposed individuals. In this report we present 16-year-old male insulin-dependent who died suddenly at night. His had well controlled, without significant hypoglycaemia. At autopsy,...