Cardiac magnetic resonance imaging in Alström syndrome

<p>Abstract</p> <p>Background</p> <p>A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients.</p> <p>Methods</p> <p>Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac magnetic resonance imaging protocol to assess cardiac structure and function in Alström cardiomyopathy.</p> <p>Results</p> <p>All patients had some degree of left and right ventricular dysfunction. Patchy mid wall gadolinium delayed enhancement was demonstrated, suggesting an underlying fibrotic process. Some degree of cardiomyopathy was universal. No evidence of myocardial infarction or fatty infiltration was demonstrated, but coronary artery disease cannot be completely excluded. Repeat scanning after 18 months in one subject showed progression of fibrosis and decreased left ventricular function.</p> <p>Conclusion</p> <p>Adult Alström cardiomyopathy appears to be a fibrotic process causing impairment of both ventricles. Serial cardiac magnetic resonance scanning has helped clarify the underlying disease progression and responses to treatment. Confirmation of significant mutations in the <it>ALMS1 </it>gene should lead to advice to screen the subject for cardiomyopathy, and metabolic disorders.</p

Rapid treatment of moderate to severe hypertension using a novel protocol in a single-centre, before and after interventional study

Rapid treatment to target in hypertension may have beneficial effects on long-term outcomes. This has led to a new recommendation in the 2018 European hypertension guidelines for patients with grade II/III hypertension to be treated to target within three months. However, whether it is feasible and safe to quickly manage treatment-naïve grade II/III hypertension to target was unclear. We examined this using a single-centre before and after interventional study, treating newly diagnosed, never-treated, grade II/III hypertensive patients with a daytime average systolic ABP ≥ 150 mmHg to target within 18 weeks. The proportion at office target BP at 18 weeks was determined, together with office and ambulatory BP change from baseline to after the intervention. The protocol was designed to maximise medication adherence, including a low threshold for treatment adaptation. Safety was evaluated through close monitoring of adverse events and protocol discontinuation. Fifty-five participants were enrolled with 54 completing the protocol. 69 ± 12.3% were at office target BP at their final visit, despite a high average starting BP of 175/103 mmHg, as a consequence of significant reductions in both office and ambulatory BP. Of those at office target BP, 51% were above target on ambulatory measurement. Adherence testing demonstrated that 92% of participants were adherent to treatment at their final visit. Therefore we conclude that the accelerated management of treatment-naïve grade II/III hypertension is feasible and safe to implement in routine practice and there is no evidence to suggest it causes harm. Further large-scale randomised studies of rapid, adaptive treatment, including a cost-effectiveness analysis, are required

Cross-cultural adaptation of the Spanish MINICHAL instrument into English for use in the United Kingdom

10.1186/s12955-022-01943-9HEALTH AND QUALITY OF LIFE OUTCOMES20