2025, Volume 32 (online first)

Fabry disease (FD), resulting from alpha-galactosidase A enzyme deficiency, remains underdiagnosed despite readily available methods for diagnosis. This multi-centre prospective survey across six tertiary centres aimed to determine the level of consideration of FD in patients presenting with left ventricular hypertrophy (LVH). LVH was defined according to the guidelines of the European Society of Cardiology (ESC) and the American College of Cardiology/American Heart Association (ACC/AHA) for the management of cardiomyopathies, where LVH is diagnosed if the left ventricular wall thickness exceeds 15 mm in any segment or exceeds 13 mm in the presence of a known diagnosis in a first-degree relative. Of 143 patients surveyed, only three with LVH underwent diagnostic testing for FD, all testing negative. Moreover, 44% of patients with LVH had an ambiguous aetiology, highlighting possible missed FD diagnostic opportunities. A discrepancy was observed between electrocardiogram (ECG) results and echocardiography or cardiac magnetic resonance (CMR) in diagnosing LVH, emphasising the need for comprehensive cardiac imaging. This project highlights the urgent requirement to amplify FD awareness, especially in patients with LVH, to ensure early intervention and better patient outcomes....

Previous studies have shown mixed results comparing short-term mortality in patients undergoing urgent transcatheter aortic valve implantation (Urg-TAVI) compared with elective procedures (El-TAVI) for severe aortic stenosis (AS). This study aimed to explore the predictors of requirement for Urg-TAVI versus El-TAVI, as well as compare differences in short- and intermediate-term mortality. This single-centre, retrospective cohort study investigated 358 patients over three years. Baseline demographic data were collected for patients undergoing elective and urgent procedures, and mortality outcomes at one-month, one-year and three-year follow-up were compared. Urg-TAVI was required in 131 (36.6%) patients. Patients undergoing Urg-TAVI were significantly more likely to be female, have poor left ventricular (LV) function, with higher baseline creatinine and higher clinical frailty score (CFS). Higher rates of vascular complications were independently associated with increased mortality at one month. Mortality at one year was associated with higher creatinine level (odds ratio [OR] 1.01, 95% confidence interval [CI] 1.00 to 1.01, p=0.0013) and an urgent procedure (OR 2.25, 95%CI 1.28 to 3.97, p=0.0048). There remained a higher mortality in the urgent patients at three-year follow-up. In conclusion, undergoing TAVI urgently did not have a statistically significant effect on 30-day mortality. However, over long-term follow-up of one year, it was associated with worse mortality than elective TAVI, and this persisted out to three years....

Cardiovascular disease (CVD) is a leading cause of global mortality, necessitating extensive research efforts. In Scotland, the NHS Research Scotland (NRS) Cardiovascular Network plays a pivotal role in coordinating cardiovascular research. Patient and public involvement (PPI) is crucial for shaping meaningful research strategies, yet barriers to such engagement persist. We organised a hybrid PPI event, bringing together patients, researchers, and stakeholders. Interactive sessions explored barriers and enablers of PPI. Qualitative and quantitative data were collected, focusing on communication, commitment, and value as key themes. Participants highlighted communication challenges, emphasising the need for clear, accessible information about research involvement. Commitment barriers included costs, travel, and time constraints. Feeling valued as research participants was essential, emphasising recognition of diverse experiences. Running the event as a hybrid facilitated broader participation, employing professional notetakers, British sign language (BSL) interpreters, and moderators. In conclusion, holding this event emphasised the importance of PPI in cardiovascular research, outlining communication, commitment, and value as key facets. Hybrid events enhance inclusivity but demand careful planning. Meaningful PPI, as exemplified in this study, informs and enhances research quality, underscoring the need for continued investment in patient involvement initiatives....

Heart failure (HF) is a significant problem in the UK with variation in services across the country. Here we describe the findings from a cross-sectional survey of HF services in the UK performed between September 2021 and February 2022. Seventy-nine responses describing hospital-based HF services from all devolved countries were received. The clinical lead in 82% of hospitals was a cardiologist with specialist interest in HF. Just over half of HF hospital services had a one-stop diagnostic clinic with a median of two clinics per week. A two-week pathway and six-week pathway were present in 78.5% and 75%, respectively. Only 4% of services met referral waiting time targets 100%, and 15% never met targets. The majority of inpatient HF services reviewed patients with primary (96%) or secondary (89%) admission for HF with reduced ejection fraction (HFrEF), corresponding percentages for HF with preserved ejection fraction (HFpEF) were 68% and 51%, respectively. HF services reported a median of two HF consultant cardiologists, five non-HF consultant cardiologists, one palliative care consultant, two band seven and one band six HF specialist nurses. In conclusion, considerable variation in hospital-based HF services across the UK exist, which may not meet the needs of patients....