Australian cardiovascular disease (CVD) prevention guidelines recommend absolute CVD risk assessment, but less than half of eligible patients have the required risk factors recorded due to fragmented implementation over the last decade. Co-designed decision aids for general practitioners (GPs) and consumers have been developed that [...]
For decades, clinicians and researchers have implemented effective measures to reduce, diagnose, and treat CVD. This includes implementing public education campaigns aimed at improving awareness of the potential preventability of CVDs and accessibility to management. Cardiovascular disease risk calculators to estimate individualized risk have also played a [...]
We report a series of patients attending a specialized cardiac genetic clinic with a putative loss-of-function FLNCtv. The phenotype is characterized by left-sided ACM in the presence of fibro-fatty infiltration of the myocardium with high risk of severe cardiac outcomes including end-stage heart failure and SCD. This [...]
To the Editor: Good clinical decisions should weigh benefits against harms. The recent JAMA Insights article on gestational diabetes mellitus (GDM) focused on the potential benefits of increased detection and treatment of GDM and subsequent promotion of cardiovascular health.1 Unmentioned were the potential detrimental effects of overdiagnosis [...]
As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings. We analyse evidence for inheritance patterns, allelic [...]
The VALID BP project was initiated to increase the availability of validated blood pressure measuring devices (BPMDs). The goal is to eliminate non validated BPMDs and minimise over- and underdiagnosis of hypertension caused by inaccurate readings. This study was undertaken to assess the potential return [...]
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting variants in people with [...]
Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiomyopathy world-wide, affecting approximately 1 in 500 individuals. Current therapeutic interventions comprise lifestyle optimisation, medications, septal reduction therapies and rarely cardiac transplantation. Advances in our understanding of disease-causing genetic variants in HCM and their associated molecular mechanisms have [...]
Patient decision aids (DA) facilitate shared decision making, but implementation remains a challenge. This study tested the feasibility of integrating a cardiovascular disease (CVD) prevention DA into general practice software.
Identifying and targeting established modifiable risk factors has been a successful strategy for reducing the burden of coronary artery disease (CAD) at the population-level. However, up to 1-in-4 patients who present with ST elevation myocardial infarction do so in the absence of such risk factors. Polygenic risk scores (PRS) [...]