Arrhythmogenic cardiomyopathy (ACM) is a genetic-based cardiac disease accompanied by severe ventricular arrhythmias and a progressive substitution of the myocardium with fibro-fatty tissue. ACM is often associated with sudden cardiac death. Due to the reduced penetrance and variable expressivity, the presence of a genetic defect is not conclusive, thus complicating the diagnosis of ACM. Recent studies on human induced pluripotent stem cells-derived cardiomyocytes (hiPSC-CMs) obtained from ACM individuals showed a dysregulated metabolic status, leading to the hypothesis that ACM pathology is characterized by an impairment in the energy metabolism. However, despite efforts having been made for the identification of ACM specific biomarkers, there is still a substantial lack of information regarding the whole metabolomic profile of ACM patients. The aim of the present study was to investigate the metabolic profiles of ACM patients compared to healthy controls (CTRLs). The targeted Biocrates AbsoluteIDQ p180 assay was used on plasma samples. Our analysis showed that ACM patients have a different metabolome compared to CTRLs, and that the pathways mainly affected include tryptophan metabolism, arginine and proline metabolism and beta oxidation of fatty acids. Altogether, our data indicated that the plasma metabolomes of arrhythmogenic cardiomyopathy patients show signs of endothelium damage and impaired nitric oxide (NO), fat, and energy metabolism.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8064316 | PMC |
| http://dx.doi.org/10.3390/metabo11040195 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.
Curr Cardiol Rep
January 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.
Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.
View Article and Find Full Text PDFDesmoplakin Cardiomyopathy: Role of Inflammation and Potential Role of Disease-Modifying Therapies.
Curr Cardiol Rep
January 2025
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI, USA.
Purpose Of Review: To summarize the available data on the use of immunosuppression therapies for the management of hot phases of disease and recurrent myocarditis in patients with desmoplakin cardiomyopathy (DSP-CMP).
Recent Findings: Occurrence of myocarditis episodes has been associated with worsening of outcomes in DSP-CMP. Multiple case reports and small case series have described potential benefit in using anti-inflammatory and immunosuppressive medications for the treatment of those episodes.
Introduction This case report illustrates the complexities of arrhythmogenic right ventricular cardiomyopathy (ARVC) and its thromboembolic complications resulting in top-of-basilar artery syndrome. We discuss the case of a 37-year-old male with ARVC who presented with acute onset of dizziness, imbalance, and vomiting, leading to the diagnosis of a top-of-basilar artery occlusion which was successfully treated. Case presentation This case highlights the diagnostic and acute treatment challenges in basilar artery occlusion (BAO) due to its non-specific symptoms and emphasizes the critical role of CT angiography in detecting occlusive thrombi for timely intervention.
View Article and Find Full Text PDFBenefits of Physical Activity in Children with Cardiac Diseases-A Concise Summary for Pediatricians.
Children (Basel)
November 2024
Department of Pediatrics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
A physically active lifestyle offers multiple benefits, including lowering the risk of cardiovascular disease, lowering body-mass index (BMI), and, last but not least, improving the quality of life. However, there are still disincentives to physical activity in children with heart diseases due to the high protection of parents and the scarcity of data in the literature. The purpose of this paper is to help pediatricians and pediatric cardiologists identify the type of physical activity allowed in children with congenital cardiac malformations, thus minimizing the risk of major adverse effects, such as acute coronary syndrome and sudden cardiac death.
View Article and Find Full Text PDFBackground: Patients with arrhythmogenic cardiomyopathy (ACM) due to pathogenic variants in , the gene for the desmosomal protein plakophilin-2, are being enrolled in gene therapy trials designed to replace the defective allele via adeno-associated viral (AAV) transduction of cardiac myocytes. Evidence from experimental systems and patients indicates that ventricular myocytes in ACM have greatly reduced electrical coupling at gap junctions and reduced Na current density. In previous AAV gene therapy trials, <50% of ventricular myocytes have generally been transduced.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!