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Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits

BACKGROUND: Indigenous Australians experience a greater burden of AF. Whether this is in-part due to differences in arrhythmogenic structures that appear to contribute to AF differences amongst other ethnicities is not known. METHODS: We studied forty individuals matched for ethnicity and other AF risk factors. Computed tomography imaging was used to characterise left atrial (LA), pulmonary vein (PV), and left atrial appendage (LAA) anatomy. RESULTS: There were no significant differences in LA diameters or volumes between Indigenous and non-Indigenous Australians. Similarly, we could not detect any consistent differences in PV number, morphology, diameters, or ostial characteristics according to ethnicity. LAA analyses suggested that Indigenous Australians may have a greater proportion of non chickenwing LAA type, and a tendency for eccentric, oval-shaped LAA ostia; however, there were no other differences seen with regards to LAA volume or depth. Indexed values for LA, PV and LAA anatomy corrected for body size were broadly similar. CONCLUSIONS: In a cohort of individuals matched for AF risk factors, we could find no strong evidence of ethnic differences in LA, PV, and LAA characteristics that may explain a predisposition of Indigenous Australians for atrial arrhythmogenesis. These findings, in conjunction with our previous data showing highly prevalent cardiometabolic risk factors in Indigenous Australians with AF, suggest that it is these conditions that are more likely responsible for the AF substrate in these individuals. Continued efforts should therefore be directed towards risk factor management in an attempt to prevent and minimise the effects of AF in Indigenous Australians.

Introduction Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH. Main recommendations Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. There is a key role for general practitioners (GPs) working in collaboration with specialists with expertise in lipidology. Advice is given on genetic and cholesterol testing and risk notification of biological relatives undergoing cascade testing for FH; all healthcare professionals should develop skills in genomic medicine. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors, and appropriate use of low-density lipoprotein (LDL)-cholesterol lowering therapies, including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Recommendations on service design are provided in the full guidance. Potential impact on care of FH These recommendations need to be utilised using judicious clinical judgement and shared decision making with patients and families. Models of care need to be adapted to both local and regional needs and resources. In Australia new government funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of these recommendations. A broad implementation science strategy is, however, required to ensure that the guidance translates into benefit for all families with FH.

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors and appropriate use of low-density lipoprotein (LDL)-cholesterol-lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision-making with patients and families. New government-funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH.

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits

Introduction: Coronary artery disease (CAD) contributes to poorer health outcomes for Aboriginal and Torres Strait Islander (ATSI) people and people from rural areas. Lower high-density lipoprotein (HDL) is a major driver of CAD. The CT derived Leaman score provides quantitative total coronary atherosclerotic plaque burden on computed tomography coronary angiography (CTCA). This audit of CTCA in the Northern Territory examines the relationship between CAD and HDL in ATSI and rural cohorts. Method(s): Patients with a CTCA performed between 2013 and 2018 at the Royal Darwin or Alice Springs Hospitals were retrospectively screened. Patients with a full lipid profile within 12 months of CTCA and no previous IHD were included. Result(s): 213 patients were included (Male: 57.7%, Mean age: 48.2 years, ATSI: 17.8%). Patients with CAD adjudged by a positive Leaman score were more likely to have hypertension (41.3% vs 18.3%,p<0.001) and statin use (48.6% vs 22.1%,p<0.001). ATSI patients were significantly younger (41.9 vs 49.9years,p<0.001) with lower HDL (0.91 vs 1.17mmol/L, p<0.001) and higher triglycerides (2.35 vs 1.63mmol/L,p=0.018) whilst there was no difference in LDL (2.8 vs 3.1mmol/L,p=0.25), total cholesterol (4.7 vs 5.0mmol/L,p=0.25), or HbA1c (7.2 vs 7.5,p=0.87).The presence of CAD or magnitude of Leaman score did not significantly vary with respect to serum HDL, ethnicity or geographic location. Conclusion(s): There was no relationship between CAD on CTCA and HDL in a primary prevention cohort, regardless of ethnicity or location. Despite this, Aboriginal and Torres Strait Islander patients were significantly younger with lower HDL and higher triglycerides. More may be revealed in future by examining novel markers of inflammatory coronary plaque on CTCA.Copyright © 2020

Objective To ascertain the use of secondary prevention medications and cardiac rehabilitation after an acute coronary syndrome (ACS) and the impact on 2-year outcomes. Methods CONCORDANCE (Cooperative National Registry of Acute Coronary care, Guideline Adherence and Clinical Events) is a prospective, observational registry of 41 Australian hospitals. A representative sample of 6859 patients with an ACS and 6 months' follow-up on 31 May 2016 were included. The main outcome measure was use of ≥75% of indicated medications (≥4/5 (or ≥3/4 if contraindicated) of angiotensin-converting enzyme (ACE) inhibitor/angiotensin receptor blocker, beta-blocker, lipid-lowering therapy, aspirin and other antiplatelet). Major adverse cardiovascular events (MACE) included myocardial infarction, stroke or cardiovascular death. Results The mean age was 65±13 years, 29% were women, and the mean Global Registry of Acute Coronary Events (GRACE) score was 106±30. At discharge, 92% were on aspirin, 93% lipid-lowering therapy, 78% beta-blocker, 74% ACE/angiotensin receptor blocker and 73% a second antiplatelet; 89% were taking ≥75% of medications at discharge, 78% at 6 months and 66% at 2 years. At 6 months, 38% attended cardiac rehabilitation, 58% received dietary advice and 32% of smokers reported quitting. Among 1896 patients followed to 2 years, death/MACE was less frequent among patients on ≥75% vs <75% of medications (8.3% vs 13.9%; adjusted OR 0.75, 95 % CI 0.56 to 0.99), and was less frequent in patients who attended versus who did not attend cardiac rehabilitation (4.6% vs 13.4%; adjusted OR 0.44, 95% CI 0.31 to 0.62). Conclusions Use of secondary prevention therapies diminishes over time following an ACS. Patients receiving secondary prevention had decreased rates of death and MACE at 2 years.

BACKGROUND: The burden of pulmonary hypertension (PHT) in Central Australia has not been previously studied. Our aim is to characterise the prevalence, clinical classification, and long-term survival of individuals with PHT in Central Australia. METHODS: A community-based cohort study of all individuals diagnosed with PHT in Central Australia between 2005 and 2016 was undertaken. We estimated PHT prevalence using population data, describe clinical PHT classification, and characterised long-term survival using Kaplan-Meier approaches. RESULTS: A total of 183 patients were identified (mean age 52±16years, 63% female). Of these individuals, 149 (81.4%) were of Aboriginal and Torres Strait Islander (ATSI) descent. The prevalence per 100,000 of any PHT was significantly higher In ATSI (723 [95% CI 608-839] compared to non-ATSI individuals (126 [95% CI 84-168], p<0.001). Furthermore, ATSI individuals were diagnosed at younger ages compared to non-ATSI individuals (49±15 vs 64±16years, p<0.001). Median estimated pulmonary artery systolic pressure (ePASP) was higher in patients with pulmonary arterial hypertension (PAH) compared to other causes (62 [IQR 54-69] vs 50 [IQR 44-58] mmHg, p<0.01). The median survival rate from diagnosis was 9 years (IQR 7.2-13.2). Age and ePASP were significant predictors of mortality (HR 1.05 [95% CI 1.02-1.07] and HR 1.56 [95% 1.00-2.42] respectively). CONCLUSIONS: In this community based study, we found a high burden of PHT in Central Australia. The prevalence of PHT is greater in ATSI individuals and is diagnosed at younger ages compared to non-ATSI individuals. Together with other cardiovascular diseases, PHT may be in-part contributing to the gap in life expectancy between ATSI and non-ATSI individuals.

Background Identifying simple, low-cost and scalable means of supporting lifestyle change and medication adherence for patients following a cardiovascular (CV) event is important. Objective The TEXTMEDS (TEXT messages to improve MEDication adherence and Secondary prevention) study aims to investigate whether a cardiac education and support programme sent via mobile phone text message improves medication adherence and risk factor levels in patients following an acute coronary syndrome (ACS). Study design A single-blind, multicentre, randomised clinical trial of 1400 patients after an ACS with 12 months follow-up. The intervention group will receive multiple weekly text messages that provide information, motivation, support to adhere to medications, quit smoking (if relevant) and recommendations for healthy diet and exercise. The primary endpoint is the percentage of patients who are adherent to cardioprotective medications and the key secondary outcomes are mean systolic blood pressure (BP) and low-density lipoprotein cholesterol. Secondary outcomes will also include total cholesterol, mean diastolic BP, the percentage of participants who are adherent to each cardioprotective medication class, the percentage of participants who achieve target levels of CV risk factors, major vascular events, hospital readmissions and all-cause mortality. The study will be augmented by formal economic and process evaluations to assess acceptability, utility and cost-effectiveness. Summary The study will provide multicentre randomised trial evidence of the effects of a text message-based programme on cardioprotective medication adherence and levels of CV risk factors. Ethics and dissemination Primary ethics approval was received from Western Sydney Local Health District Human Research Ethics Committee (HREC2012/12/4.1 (3648) AU RED HREC/13/WMEAD/15). Results will be disseminated via peer-reviewed publications and presentations at international conferences. Trial registration number ACT

Background: Identifying simple, low-cost and scalable means of supporting lifestyle change and medication adherence for patients following a cardiovascular (CV) event is important. Objective: The TEXTMEDS (TEXT messages to improve MEDication adherence and Secondary prevention) study aims to investigate whether a cardiac education and support programme sent via mobile phone text message improves medication adherence and risk factor levels in patients following an acute coronary syndrome (ACS). Study design: A single-blind, multicentre, randomised clinical trial of 1400 patients after an ACS with 12 months follow-up. The intervention group will receive multiple weekly text messages that provide information, motivation, support to adhere to medications, quit smoking (if relevant) and recommendations for healthy diet and exercise. The primary endpoint is the percentage of patients who are adherent to cardioprotective medications and the key secondary outcomes are mean systolic blood pressure (BP) and low-density lipoprotein cholesterol. Secondary outcomes will also include total cholesterol, mean diastolic BP, the percentage of participants who are adherent to each cardioprotective medication class, the percentage of participants who achieve target levels of CV risk factors, major vascular events, hospital readmissions and all-cause mortality. The study will be augmented by formal economic and process evaluations to assess acceptability, utility and cost-effectiveness. Summary: The study will provide multicentre randomised trial evidence of the effects of a text message-based programme on cardioprotective medication adherence and levels of CV risk factors. Ethics and dissemination: Primary ethics approval was received from Western Sydney Local Health District Human Research Ethics Committee (HREC2012/12/4.1 (3648) AU RED HREC/13/WMEAD/15). Results will be disseminated via peer-reviewed publications and presentations at international conferences. Trial registration numbe

AIM: To assess the relationships of diabetes and albuminuria with all-cause mortality and cardiovascular disease outcomes in a population without prior cardiovascular disease using data from the Darwin Region Urban Indigenous Diabetes (DRUID) study. METHODS: We conducted a prospective cohort study of 706 participants (aged 15-81 years, 68% women) without prior cardiovascular disease who underwent a 75-g oral glucose tolerance test. Deaths and fatal or non-fatal cardiovascular disease were determined over 7 years, and hazard ratios with 95% CIs and population attributable risks were estimated for baseline glycaemia and albuminuria. RESULTS: Compared with normoglycaemia and after adjustment for age, sex, hypertension, dyslipidaemia and smoking, known diabetes was associated with an adjusted hazard ratio of 4.8 (95% CI 1.5-14.7) for all-cause mortality and 5.6 (95% CI 2.1-15.2) for cardiovascular disease. Compared with normoalbuminuria, the respective adjusted risks for macroalbuminuria were 10.9 (95% CI 3.7-32.1) and 3.9 (95% CI 1.4-10.8). The Adjusted all-cause mortality and cardiovascular disease estimated population attributable risks for diabetes were 27% and 32%, and for albuminuria they were 32% and 21%, respectively. CONCLUSIONS: In our study population, the burden of mortality and cardiovascular disease was largely driven by diabetes and albuminuria. This finding on the influence of diabetes and albuminuria is consistent with reports in other high-risk Indigenous populations and should be better reflected in risk scores and intervention programmes.