Publications by authors named "Tom Donoghue"
Article Synopsis
- Aotearoa/New Zealand's study involved analyzing hypertrophic cardiomyopathy (HCM) patients enrolled in a national registry, focusing on their genetic testing results by ethnicity.
- Of the 336 patients, a significant disparity was found in genetic variant identification, with 40% having pathogenic variants, but lower rates among Māori and Pacific populations compared to Europeans.
- Women were more likely to carry these variants and present with symptoms at a younger age, with variant-positive patients also experiencing higher instances of cardiac arrest or sudden death.
Article Synopsis
- New Zealand's population shows diversity in genetic variants of long QT syndrome (LQTS), examined using the Cardiac Inherited Disease Registry.
- A study of 264 LQTS patients revealed that while clinical traits were similar across ethnicities, Polynesian probands had a lower rate of class III-V LQTS variants at 35%, compared to 63% in Europeans and 72% in others.
- The findings suggest that rare genetic variants are more prevalent in Polynesian individuals, highlighting the need for improved understanding of genetic variations specific to this population.
Background: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand.
Methods: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families.
Results: During the study period, 365 SUDY cases were referred for molecular autopsy.
Aim: To investigate regional variations in the detection of sudden death syndromes across New Zealand by assessing registrations in the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).
Methods: The CIDRNZ has been a national entity since 2009, with a hub in Auckland and locally funded regional coordinators (Midland, Central) linked with multidisciplinary cardiac genetic teams. Registration is consent-based and voluntary, and involves the collection of clinical/genetic information and permits genetic testing and research.
Objectives: 'Idiopathic' cardiac conditions such as dilated cardiomyopathy (DCM) and resuscitated sudden cardiac death (RSCD) may be familial. We suspected that inpatient cardiology services fail to recognise this. Our objective was to compare diagnostic value of family histories recorded by inpatient cardiology teams with a multigenerational family tree obtained by specially trained allied professionals.
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