Catecholaminergic polymorphic ventricular tachycardia is one of the most lethal channelopathies, characterized by ventricular arrhythmias triggered by stress or physical activity. We present the case of an adolescent who consulted for recurrent syncope precipitated by exercise. In the diagnostic approach, catecholaminergic polymorphic ventricular tachycardia was reached, with a mutation in the cardiac ryanodine receptor gene, Heterozygous c.14311G> A (p.v4771I exon 100), antiarrhythmic drugs and implantable cardioverter-defibrillator were necessary with satisfactory evolution. Clinical suspicion, stress test and genetic tests are essential for a timely diagnosis and management of this pathology.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506566 | PMC |
| http://dx.doi.org/10.47487/apcyccv.v2i3.151 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Arrhythmogenic calmodulin variants D131E and Q135P disrupt interaction with the L-type voltage-gated Ca channel (Ca1.2) and reduce Ca-dependent inactivation.
Acta Physiol (Oxf)
February 2025
Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, Faculty of Health and Life Sciences, University of Liverpool, Liverpool, UK.
Aim: Long QT syndrome (LQTS) and catecholaminergic polymorphism ventricular tachycardia (CPVT) are inherited cardiac disorders often caused by mutations in ion channels. These arrhythmia syndromes have recently been associated with calmodulin (CaM) variants. Here, we investigate the impact of the arrhythmogenic variants D131E and Q135P on CaM's structure-function relationship.
View Article and Find Full Text PDFOncologic Brugada.
JACC Case Rep
January 2025
Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Structural abnormalities within the right ventricular outflow tract (RVOT) can present similarly to Brugada syndrome. A 34-year-old woman with no medical history presented with polymorphic ventricular tachycardia/ventricular fibrillation cardiac arrest and initial electrocardiogram showed type I Brugada pattern. Cardiac magnetic resonance imaging revealed prominent tissue thickening at the RVOT with late gadolinium enhancement.
View Article and Find Full Text PDFIntroduction: Melanopsin is a photopigment with roles in mediating sleep and circadian-related processes, which are often disrupted in Alzheimer's disease (AD). Melanopsin also impacts cognition and synaptogenesis. This study investigated the associations between melanopsin genetic variants, sleep, and markers of brain health.
View Article and Find Full Text PDFComprehensive in silico analysis of single nucleotide polymorphism and molecular dynamics simulation of human GATA6 protein in ventricular septal defect.
Narra J
December 2024
Division of Pediatric Cardiology, Department of Pediatric, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Congenital heart disease (CHD) represents nearly one-third of congenital birth defects annually, with ventricular septal defect (VSD) being the most common type. The aim of this study was to explore the role of specific GATA binding protein 6 gene () mutations as a potential etiological factor in the development of VSD through an in silico approach. Data were collected from the human gene databases: DisGeNET and GeneCards, with protein-protein interaction networks constructed via STRING and Cytoscape.
View Article and Find Full Text PDFGenome-wide association study unravels mechanisms of brain glymphatic activity.
Nat Commun
January 2025
Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Brain glymphatic activity, as indicated by diffusion-tensor imaging analysis along the perivascular space (ALPS) index, is involved in developmental neuropsychiatric and neurodegenerative diseases, but its genetic architecture is poorly understood. Here, we identified 17 unique genome-wide significant loci and 161 candidate genes linked to the ALPS-indexes in a discovery sample of 31,021 individuals from the UK Biobank. Seven loci were replicated in two independent datasets.
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!