Low-dose digoxin improves cardiac function in patients with heart failure, preserved ejection fraction and atrial fibrillation - the RATE-AF randomized trial.

Aims: To compare the effect of digoxin versus beta-blockers on left ventricular function, in patients with permanent atrial fibrillation (AF) and symptoms of heart failure within the RATE-AF randomized trial.

Methods And Results: Blinded echocardiograms were performed at baseline and 12-month follow-up using a pre-defined imaging protocol and the index-beat approach. The change in systolic and diastolic function was assessed, stratified by left ventricular ejection fraction (LVEF).

Early Atrial Remodeling Drives Arrhythmia in Fabry Disease.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-Gal A (α-galactosidase A) deficiency, resulting in multiorgan accumulation of sphingolipid, namely globotriaosylceramide. This triggers ventricular myocardial hypertrophy, fibrosis, and inflammation, driving arrhythmia and sudden death. Atrial fibrillation is common, yet the cellular mechanisms accounting for this are unknown.

The Management of Obesity Before Catheter Ablation of AF: The Missing Piece?

Obesity independently increases AF risk and negatively affects the outcomes of catheter ablation. This review examines the relationship between obesity and AF, focusing on structural and electrical remodelling. Multiple studies demonstrate worse ablation outcomes in patients with obesity.

Utilization of Transthoracic Echocardiography and Biochemical Markers in Detecting Cardiomyopathy in Fabry Disease.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency, resulting in multiorgan accumulation of glycosphingolipid. Cardiac accumulation leads to left ventricular hypertrophy, diastolic dysfunction, fibrosis, and sudden cardiac death. Advances in transthoracic echocardiograms (TTEs) have enabled the detection of subclinical atrial and ventricular cardiomyopathy.

The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease.

Background: Lamin (LMNA) heart disease is a lethal form of dilated cardiomyopathy (DCM).

Objectives: The authors explored its cardiovascular magnetic resonance (CMR) phenotype to discover prognostically useful and subclinical biomarkers.

Methods: This prospective multicenter study recruited 4 groups: LMNA carriers with left ventricular ejection fraction ≥55% (Lamin+EF), LMNA carriers with left ventricular ejection fraction <50% (Lamin-EF), individuals with DCM with wild-type LMNA (DCMwt), and healthy volunteers.

Fabry Disease: Insights into Pathophysiology and Novel Therapeutic Strategies.

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by deficiency of α-galactosidase A (α-GalA), leading to the accumulation of glycosphingolipids and multi-organ dysfunction, particularly affecting the cardiovascular and renal systems. Disease-modifying treatments such as enzyme replacement therapy (ERT) and oral chaperone therapy (OCT) have limited efficacy, particularly in advanced disease, prompting a need for innovative therapeutic approaches targeting underlying molecular mechanisms beyond glycosphingolipid storage alone. Recent insights into the pathophysiology of FD highlights chronic inflammation and mitochondrial, lysosomal, and endothelial dysfunction as key mediators of disease progression.

Underdiagnosis of Fabry disease in minority ethnic groups.

Fabry disease (FD) is a rare, pan ethnic X-linked disorder. We explored ethnic representation in our service and a national patient organisation. An audit of the University Hospitals Birmingham FD cohort revealed that 9 % of index cases are minority ethnic, compared to 18.

Changes in peak oxygen consumption in Fabry disease and associations with cardiomyopathy severity.

Background: Fabry disease (FD) causes multiorgan sphingolipid accumulation, with cardiac involvement responsible for the largest burden of morbidity and mortality. Exercise intolerance in FD is prevalent, yet the mechanisms of this are poorly understood. The aim of this study was to assess exercise intolerance in FD and identify whether this correlates with the phase of cardiomyopathy.

Kidney Outcomes in Transthyretin Amyloid Cardiomyopathy.

Importance: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive cardiomyopathy that commonly presents with concomitant chronic kidney disease. Chronic kidney dysfunction is associated with worse outcomes, but the prognostic value of changes in kidney function over time has yet to be defined.

Objective: To assess the prognostic importance of a decline in estimated glomerular filtration rate (eGFR) in a large cohort of patients with ATTR-CM.

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model.

Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi-organ dysfunction and premature cardiovascular disease. This may manifest as an infantile-onset dilated cardiomyopathy with significant associated mortality. An adult-onset restrictive cardiomyopathy may also feature later in life.

Pilot study to evaluate the use of remote patient monitoring to guide the timing of valve intervention in patients with severe asymptomatic aortic stenosis (APRAISE-AS): study protocol for a randomised controlled trial delivered in two tertiary cardiac centres in the UK.

Introduction: Aortic stenosis (AS) is common affecting >13% of adults over the age of 75 years. In people who develop symptoms, without valve replacement, prognosis is dismal with mortality as high as 50% at 1 year. In asymptomatic patients, the timing of valve intervention is less well defined and a strategy of watchful waiting is recommended.

Defining the cardiovascular phenotype of adults with Alström syndrome.

Background: >40% of infants with Alström Syndrome (AS) present with a transient, severe cardiomyopathy in the first months of life, with apparent recovery in survivors. One in five individuals then develop a later-onset cardiomyopathy but wide clinical variability is observed, even within the same family. The rationale for this study is to provide a comprehensive evaluation of the cardiovascular phenotype in adults with AS.

Prevalence and Impact of Concomitant Atrial Fibrillation in Patients Undergoing Percutaneous Coronary Intervention for Acute Myocardial Infarction.

Concomitant atrial fibrillation (AF) is associated with an adverse prognosis in patients with acute myocardial infarction (MI). However, it remains unclear whether this is due to a causal effect of AF or whether AF acts as a surrogate marker for comorbidities in this population. Furthermore, there are limited data on whether coronary artery disease distribution impacts the risk of developing AF.

Arrhythmogenesis in Fabry Disease.

Purpose Of Review: Fabry Disease (FD) is a rare lysosomal storage disorder characterised by multiorgan accumulation of glycosphingolipid due to deficiency in the enzyme α-galactosidase A. Cardiac sphingolipid accumulation triggers various types of arrhythmias, predominantly ventricular arrhythmia, bradyarrhythmia, and atrial fibrillation. Arrhythmia is likely the primary contributor to FD mortality with sudden cardiac death, the most frequent cardiac mode of death.

'The imitation game': a heart failure case report with a great diagnostic twist.

Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is a hereditary cardiomyopathy that has been associated with mutations in genes encoding for components of the cardiac desmosome including desmoglein-2 (DSG-2).

Case Summary: A 49-year-old male presented with decompensated heart failure and ventricular arrythmias. A cardiac magnetic resonance scan demonstrated a dilated left ventricle (LV) with severely impaired systolic function and extensive subepicardial late gadolinium enhancement in the lateral wall.

Structural Progression in Patients with Definite and Non-Definite Arrhythmogenic Right Ventricular Cardiomyopathy and Risk of Major Adverse Cardiac Events.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disease characterised by early arrhythmias and structural changes. Still, there are limited echocardiography data on its structural progression. We studied structural progression and its impact on the occurrence of major adverse cardiovascular events (MACE).

Feasibility study of Glucagon-like peptide-1 analogues for the optimization of Outcomes in obese patients undergoing AbLation for Atrial Fibrillation (GOAL-AF) protocol.

Background: Catheter ablation for atrial fibrillation is recommended for symptomatic patients after failed medical therapy. Ablation has a higher failure rate in obese patients, and both the prevalence of atrial fibrillation and obesity are increasingly globally. The outcome of ablation can be improved if obese patients can achieve goal-oriented weight reduction prior to ablation.