Publications by authors named "Douglas Cannie"
Article Synopsis
- Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
- Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
- The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
Article Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene lead to a unique type of cardiomyopathy that doesn't fit neatly into existing categories like DCM, NDLVC, or ARVC, with limited past studies on potential predictors of severe outcomes.
- Researchers analyzed 800 patients with DSP variants from a global network over an average of 3.7 years, finding that 17.4% experienced sustained ventricular arrhythmias (VAs) and 9.0% had heart failure (HF) hospitalizations.
- Key risk factors for developing VAs included female sex, history of non-sustained and sustained VAs, and lower left ventricular ejection fraction, while T-wave inversion was linked to HF
Article Synopsis
- * The study examined the effects of tafamidis on tissue factor (TF) expression and activity in human aortic endothelial cells (HAECs), revealing that tafamidis significantly reduces TF levels when induced by inflammatory signals.
- * This reduction in TF activity suggests that tafamidis may help lower the risk of blood clots (thromboembolic complications) in patients with ATTR cardiomyopathy, providing insights into its potential benefits beyond just stabilizing TTR.
Article Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene are linked to a specific type of arrhythmogenic cardiomyopathy, which increases the risk of serious heart rhythm issues, but current evaluation methods are unreliable for these patients.
- A study was conducted with patients from the DSP-ERADOS registry to track the occurrence of sustained ventricular arrhythmia (VA) over time, using a detailed statistical analysis to create a new clinical prediction tool.
- The research identified five key clinical factors that can help predict the risk of developing sustained VA, resulting in a new DSP risk score that demonstrated strong prediction capabilities in both the initial and external testing groups.
Background: Acute myocarditis is an inflammatory condition that may precede the development of dilated or arrhythmogenic cardiomyopathy.
Objectives: The aim of this study was to investigate the reported prevalence of pathogenic or likely pathogenic (P/LP) variants in cardiomyopathy-associated genes in patients with acute myocarditis.
Methods: For this systematic review and meta-analysis, the PubMed and Embase databases were searched on March 4, 2023.
Article Synopsis
- * Researchers performed DPD scans on 39 patients aged 70-85, finding that 7.7% had results indicating ATTR-CM, and these patients also showed significant left ventricular hypertrophy.
- * The findings suggest that doctors should consider ATTR-CM in older patients needing pacemakers, particularly if they have related conditions like spinal canal stenosis or carpal tunnel syndrome.
Background And Aims: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants.
View Article and Find Full Text PDFBackground: Variants in are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in variant carriers and the impact of sex on outcomes.
Methods: Consecutive probands and relatives carrying variants were retrospectively recruited from 12 cardiomyopathy units.
Purpose Of Review: This article summarises current understanding of the genetic architecture underpinning left ventricular noncompaction (LVNC) and highlights the difficulty in differentiating LVNC from hypertrabeculation seen in normal, healthy individuals, that caused by physiological adaptation or that seen in association with cardiomyopathy phenotypes.
Recent Findings: Progress has been made in better defining the LVNC phenotype and those patients who may benefit from genetic testing. Yield of diagnostic genetic testing may be low in the absence of syndromic features, systolic dysfunction and a family history of cardiomyopathy.
Current diagnostic strategies fail to illuminate the presence of rare disease in the heart failure population. One-third of heart failure patients are categorised as suffering an idiopathic dilated cardiomyopathy, while others are labelled only as heart failure with preserved ejection fraction. Those affected frequently suffer from delays in diagnosis, which can have a significant impact on quality of life and prognosis.
View Article and Find Full Text PDFAnticoagulation and the risk of complications in ventricular tachycardia and premature ventricular complex ablation.
Pacing Clin Electrophysiol
November 2018
Background: Many patients undergoing ventricular tachycardia (VT) or premature ventricular complex (PVC) ablation receive antithrombotic medications. Their uninterrupted use has the potential to affect complication rates. We assessed the incidence of complications in a large cohort of patients undergoing these procedures, according to antithrombotic medication use.
View Article and Find Full Text PDFRAAFT-2: Radiofrequency ablation vs antiarrhythmic drugs as first-line treatment of paroxysmal atrial fibrillation.
Glob Cardiol Sci Pract
November 2014
Radiofrequency ablation (RFA) for the treatment of paroxysmal Atrial Fibrillation (pAF) has a class 1 indication in patients who have not tolerated or responded to antiarrhythmic medications. Antiarrhythmic medications (AAM) are, however, limited not only by modest efficacy, but also by significant side effects. Discontinuation rates for AAM range from 11-40% in trials.
View Article and Find Full Text PDF