The understanding and prevalence of cardiac channelopathies has grown over time. Many patients are asymptomatic but are at risk for malignant arrhythmias during high-acuity medical admissions. Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia are discussed with specific consideration given for the role these medical conditions play during an intensive care unit admission-for either cardiac or noncardiac reasons.
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http://dx.doi.org/10.1016/j.ccc.2021.11.014 | DOI Listing |
Front Mol Biosci
December 2024
Swansea University Medical School, Institute of Life Science, Swansea, United Kingdom.
Aims: Mutations in the cardiac ryanodine receptor (RyR2) are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This study investigates the underlying molecular mechanisms for CPVT mutations within the RyR2 N-terminus domain (NTD).
Methods And Results: We consulted the high-resolution RyR2 structure in both open and closed configuration to identify mutations G357S/R407I and A77T, which lie within the NTD intra- and inter-subunit interface with the Core Solenoid (CSol), respectively.
BMC Pediatr
January 2025
Department of PICU, Children's Medical Center, the First Hospital of Jilin University, 1 Xinmin Street, Changchun, Jilin Province, China.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited ion channelopathy characterized by a structurally normal heart sensitive to catecholamines. It primarily presents as Bidirectional ventricular tachycardia (BiVT) and is a significant cause of sudden cardiac death in children.
Case Presentation: We report our experience with central Extracorporeal Membrane Oxygenation (ECMO) therapy in a 4-year-old boy with CPVT.
Cureus
December 2024
Pediatric Cardiology, Children's Hospital at Montefiore, Bronx, USA.
Brugada syndrome (BrS) is a genetic channelopathy that may predispose to ventricular arrhythmia. It is inherited as an autosomal dominant pattern with incomplete penetrance. Fever can unmask Brugada syndrome in children who have a genetic predisposition.
View Article and Find Full Text PDFKorean Circ J
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Background And Objectives: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, , the major CPVT-causative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Dr, Raleigh, NC, 27607, USA.
Hypertrophic cardiomyopathy (HCM) afflicts humans, cats, pigs, and rhesus macaques. Disease sequelae include congestive heart failure, thromboembolism, and sudden cardiac death (SCD). Sarcomeric mutations explain some human and cat cases, however, the molecular basis in rhesus macaques remains unknown.
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