Sudden cardiac death (SCD) is one of the leading causes of death worldwide, usually involving young people. SCD remains a critical public health problem accounting for 185,000-450,000 deaths annually, representing around 7%-18% of all deaths globally. As per evidence, ∼2%-54% of sudden unexpected deaths in people under the age of 35 years fail to show evidence of structural cardiac abnormalities at autopsy, making ion channelopathies the probable causes in such cases. The most generally recognized cardiac ion channelopathies with genetic testing are long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQTS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). The substantial progress in understanding the genetics of ion channelopathies in the last 2 decades has obliged the early diagnosis and prevention of SCD to a certain extent. In this review, we analyze the critical challenges and recent advancements in the identification, risk stratification, and clinical management of potentially fatal cardiac ion channel disorders. We also emphasize the application of precision medicine (PM) and artificial intelligence (AI) for comprehending the underlying genetic mechanisms, especially the role of human induced pluripotent stem cell (iPSC) based platforms to unravel the primary refractory clinical problems associated with channelopathies.
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http://dx.doi.org/10.1016/j.cpcardiol.2023.101990 | DOI Listing |
Int J Mol Sci
January 2025
Almazov National Medical Research Centre, 197341 St. Petersburg, Russia.
Several mutations of the uppermost arginine, R219, in the voltage-sensing sliding helix S4 of cardiac sodium channel Nav1.5 are reported in the ClinVar databases, but the clinical significance of the respective variants is unknown (VUSs). AlphaFold 3 models predicted a significant downshift of S4 in the R219C VUS.
View Article and Find Full Text PDFBiomolecules
January 2025
Institute of Neuroscience, Lobachevsky State University of Nizhny Novgorod, 23 Gagarin Ave., 603022 Nizhny Novgorod, Russia.
Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. What sets DEEs apart is their complex interplay of epilepsy and developmental delay, often driven by genetic factors. These two aspects influence one another but can develop independently, creating diagnostic and therapeutic challenges.
View Article and Find Full Text PDFInt Urogynecol J
January 2025
Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3C, 02-106, Warsaw, Poland.
Introduction And Hypothesis: Pelvic floor dysfunction usually results in pelvic organ prolapse (POP) and/or urinary incontinence. In women, several factors, including pregnancy and vaginal delivery, can affect pelvic muscle conditions. The aim of the study was to perform a genetic analysis in young women with a family history of pelvic floor dysfunction to find potentially harmful variants or variants that increase the risk of developing pelvic floor disorders.
View Article and Find Full Text PDFFront Neurol
December 2024
NextGen Precision Health, University of Missouri, Columbia, MO, United States.
In Periodic Paralysis (PP), a rare inherited condition caused by mutation in skeletal muscle ion channels, the phenotype changes with age, transitioning from the episodic attacks of weakness that give the condition its name, to a more degenerative phenotype of permanent progressive weakness and myopathy. This leads to disability and reduced quality of life. Neither the cause of this phenotype transition, nor why it occurs around the age of 40 is known.
View Article and Find Full Text PDFBMC 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.
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