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• W1488309992 abstract "Knowledge derived from human genetics and from studies in animal models has led to the discovery of multiple molecular defects underlying inherited arrhythmias and cardiac conduction system diseases in structurally altered or normal hearts.Minor disturbances at the molecular and cellular levels can initiate severe rhythm abnormalities. Some congenital heart diseases and cardiomyopathies carry a higher risk for conduction disturbances or arrhythmias. In the structurally normal heart, inherited cardiac arrhythmias or conduction system disease are most often primary electrical diseases. The underlying molecular defect in those disorders, also termed ion channelopathies, typically involves genes that encode ion channels, responsible for maintaining intracellular and extracellular electrolyte balance.Advances in molecular biology and genetics facilitate the identification of factors that may predispose an individual with or without structural heart disease to arrhythmias or sudden death. Taking those discoveries into clinical practice improves risk stratification and allows potential identification of new therapeutic targets.Key Concepts: Sudden unexpected cardiac death in the pediatric population is a devastating event with an incidence of approximately 1–6 in 100 000 per year and in some cases is the first presentation of a previously undiagnosed disorder.Inherited arrhythmias and cardiac conduction system disease frequently occur in pediatric patients with congenital heart disease but can also be associated with a structurally normal heart.Mutations in genes encoding for cytoskeletal proteins, sarcomeric proteins and ion channels are responsible for the majority of inherited arrhythmias associated with the structurally normal or abnormal heart.Identifying the molecular basis of congenital arrhythmias optimises patient screening, risk stratification and allows genotype-directed therapies of patients at risk for sudden cardiac death.Keywords:arrhythmias;cardiac conduction system disease;congenital heart disease;molecular basis;long QT syndrome;channelopathies;electrophysiology;cardiomyopathy" @default.
• W1488309992 created "2016-06-24" @default.
• W1488309992 creator A5026048159 @default.
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• W1488309992 date "2010-04-19" @default.
• W1488309992 modified "2023-09-25" @default.
• W1488309992 title "Molecular Genetics of Cardiac Arrhythmias" @default.
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• W1488309992 doi "https://doi.org/10.1002/9780470015902.a0022491" @default.
• W1488309992 hasPublicationYear "2010" @default.
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