ORCID Profile
0000-0003-1626-4302
Current Organisations
Garvan Institute of Medical Research
,
Murdoch Childrens Research Institute
,
University of Sydney
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Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 08-2021
DOI: 10.1161/CIRCEP.121.009834
Abstract: The overall incidence of sudden cardiac death is considerably lower among women than men, reflecting significant and often under-recognized sex differences. Women are older at time of sudden cardiac death, less likely to have a prior cardiac diagnosis, and less likely to have coronary artery disease identified on postmortem examination. They are more likely to experience their death at home, during sleep, and less likely witnessed. Women are also more likely to present in pulseless electrical activity or systole rather than ventricular fibrillation or ventricular tachycardia. Conversely, women are less likely to receive bystander cardiopulmonary resuscitation or receive cardiac intervention post-arrest. Underpinning sex disparities in sudden cardiac death is a paucity of women recruited to clinical trials, coupled with an overall lack of prespecified sex-disaggregated evidence. Thus, predominantly male-derived data form the basis of clinical guidelines. This review outlines the critical sex differences concerning epidemiology, cause, risk factors, prevention, and outcomes. We propose 4 broad areas of importance to consider: physiological, personal, community, and professional factors.
Publisher: Springer Science and Business Media LLC
Date: 03-09-2021
DOI: 10.1007/S11897-021-00526-X
Abstract: We explore the sex-specific interaction of genetics and the environment on the clinical course and outcomes of hypertrophic cardiomyopathy (HCM). Women account for approximately one-third of patients in specialist HCM centres and reported in observational studies. As a result, evidence informing clinical guideline recommendations is based predominantly on risk factors and outcomes seen in men. However, disease progression appears to be different between the sexes. Women present at a more advanced stage of disease, are older at diagnosis, have higher symptom burden, carry greater risk for heart failure and are at greater risk of mortality compared to men. Women are more likely to be gene-positive, while men are more likely to be gene-negative. The risk of sudden cardiac death and access to specialised care do not differ between the sexes. Reporting sex-disaggregated results is essential to identify the mechanisms leading to sex differences in HCM.
Publisher: Wiley
Date: 16-01-2020
DOI: 10.1111/JCE.14346
Abstract: The prevalence and clinical course of atrial fibrillation (AF) in hypertrophic cardiomyopathy (HCM) is well described, though less so for other inherited cardiomyopathies (familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction) and inherited arrhythmia syndromes (long QT syndrome, Brugada syndrome or catecholaminergic polymorphic ventricular tachycardia [CPVT]). We examined the frequency, clinical characteristics and AF-related management and outcomes amongst this patient population. We retrospectively studied consecutive probands with inherited cardiomyopathy (n = 962) and inherited arrhythmia syndromes (n = 195) evaluated between 2002 and 2018. AF was observed in 5% to 31% of patients, with the highest frequency in HCM. Age of AF onset was 45.8 ± 21.9 years in the inherited arrhythmia syndromes compared with 53.3 ± 15.3 years in the inherited cardiomyopathies, with four CPVT patients developing AF at a median age of 20 years. Overall, 11% of patients with AF had a transient ischemic attack or stroke of which a total of 80% were anticoagulated with 48% of events occurring at a CHA Up to one-third of inherited heart disease patients will develop AF. While common general population risk factors are key in patients with HCM, the genotype is independently associated with AF. Amongst inherited arrhythmia syndromes, AF is less common, though often occurs below the age of 50 years.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 03-2021
DOI: 10.1161/CIRCHEARTFAILURE.120.007537
Abstract: Clinical studies of hypertrophic cardiomyopathy are over-represented by in iduals of European ethnicity, with less known about other ethnic groups. We investigated differences between patients in a multiethnic Australian hypertrophic cardiomyopathy population. We performed a retrospective cohort study of 836 unrelated hypertrophic cardiomyopathy probands attending a specialized clinic between 2002 and 2020. Major ethnic groups were European (n=611), East Asian (n=75), South Asian (n=58), and Middle Eastern and North African (n=68). The minor ethnicity groups were Oceanian (n=9), People of the Americas (n=7), and African (n=8). One-way ANOVA with Dunnett post hoc test and Bonferroni adjustment were performed. Mean age of the major ethnic groups was 54.9±16.9 years, and 527 (65%) were male. Using the European group as the control, East Asian patients had a lower body mass index (29 versus 25 kg/m 2 , P .0001). South Asians had a lower prevalence of atrial fibrillation (10% versus 31%, P =0.024). East Asians were more likely to have apical hypertrophy (23% versus 6%, P .0001) and Middle Eastern and North African patients more likely to present with left ventricular outflow tract obstruction (46% versus 34%, P =0.0003). East Asians were less likely to undergo genetic testing (55% versus 85%, P .0001) or have an implantable cardioverter-defibrillator implanted (19% versus 36%, P =0.037). East Asians were more likely to have a causative variant in a gene other than MYBPC3 or MYH7 , whereas Middle Eastern and North African and South Asians had the highest rates of variants of uncertain significance (27% and 21%, P .0001). There are few clinical differences based on ethnicity, but importantly, we identify health disparities relating to access to genetic testing and implantable cardioverter-defibrillator use. Unless addressed, these gaps will likely widen as we move towards precision-medicine–based care of in iduals with hypertrophic cardiomyopathy.
Publisher: JMIR Publications Inc.
Date: 05-2023
Abstract: enetic heart diseases such as hypertrophic cardiomyopathy can cause significant morbidity and mortality, ranging from syncope, chest pain and palpitations to heart failure and sudden cardiac death. These diseases are inherited in an autosomal dominant fashion, meaning family members of affected in iduals have a one in two chance of also inheriting the disease (‘at-risk relatives’). The healthcare utilisation patterns of in iduals with a genetic heart disease including emergency department presentations and hospital admissions, are poorly understood. By linking genetic heart disease registry data to routinely collected health data we aim to provide a more comprehensive clinical dataset to examine the burden of disease on in iduals, families and healthcare systems. he objective of this study is to link the Australian Genetic Heart Disease (AGHD) Registry with routinely collected whole-population health datasets to investigate the healthcare utilisation of in iduals with a genetic heart disease and their at-risk relatives. This linked dataset will allow for investigation of differences in outcomes and healthcare utilisation due to disease, sex, socioeconomic status and other factors. he AGHD Registry is a nationwide dataset which began in 2007 and aims to recruit in iduals with a genetic heart disease and their family members. In this study, demographic, clinical, and genetic data (available 2007-2019) for AGHD Registry participants and at-risk relatives residing in New South Wales (NSW) Australia, were linked to routinely collected health data. These data included NSW based datasets covering hospitalisations (2001-2019) and emergency department presentations (2005-2019), and both state-wide and national mortality registries (2007-2019). The linkage was performed by the Centre for Health Record Linkage (CHeReL). Investigations stratifying by diagnosis, age, sex, socioeconomic status and gene status will be undertaken and reported using descriptive statistics. SW AGHD Registry participants were linked to routinely collected health datasets using probabilistic matching (November 2019). Of 1720 AGHD Registry participants, 1384 had linkages with 11,610 hospital records, 7032 emergency department records and 60 death records. Data assessment and harmonisation were performed, and descriptive data analysis is underway. e intend to provide insights into the healthcare utilisation patterns of in iduals with a genetic heart disease and their at-risk relatives, including frequency of hospital admissions and differences due to factors such as disease, sex and socioeconomic status. Identifying disparities and potential barriers to care may highlight specific healthcare needs (e.g. between sexes) and factors impacting healthcare access and utilisation. > ERR1-10.2196/48636
Publisher: Elsevier BV
Date: 02-2021
Publisher: Springer Science and Business Media LLC
Date: 12-01-2021
Publisher: Elsevier BV
Date: 09-2023
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 04-2020
Publisher: JMIR Publications Inc.
Date: 20-09-2023
DOI: 10.2196/48636
Location: Australia
No related grants have been discovered for Alexandra Butters.