Long QT syndrome (LQTS) is an inherited cardiac disease characterized by prolongation of QT interval at surface ECG, T-wave abnormalities, and high risk of life-threatening arrhythmias in otherwise healthy young individuals. Currently the LQTS diagnosis is genetically confirmed in nearly 75–85% of LQTS patients, revealing a good knowledge of the genetic bases of the disease. The main LQTS genes are KCNQ1, KCNH2, and SCN5A encoding potassium and sodium cardiac ion channels responsible of the cardiac action potential duration. Minor contributors of LQTS genetic background include genes encoding other cardiac ion channels, ancillary subunits, and protein components forming channels’ macromolecular complexes. Fetal and neonatal forms of LQTS are the most aggressive form of the disease, frequently associated with typical ECG features as very prolonged QTc, 2:1 functional atrioventricular block, T-wave alternans, and life-threatening arrhythmias. The genetic basis of these early-onset cases is peculiar. Indeed, while potassium channel mutations are the most commonly observed causes of adult LQTS, fetal and neonatal forms of the disease are mainly due to aggressive sodium channel mutations or to mutations affecting calcium channel activity, as in Timothy syndrome, triadin knockout syndrome, and calmodulin-LQTS. Aggressive forms of LQTS can also cause sudden infant death syndrome (SIDS) or intrauterine fetal death.

Crotti, L., Ghidoni, A., Dagradi, F. (2019). Genetic of adult and fetal forms of Long QT Syndrome.. In Genetic Causes of Cardiac Disease (pp. 1-43). Jeanette Erdmann and Alessandra Moretti [10.1007/978-3-030-27371-2_1].

Genetic of adult and fetal forms of Long QT Syndrome.

Crotti, L;
2019

Abstract

Long QT syndrome (LQTS) is an inherited cardiac disease characterized by prolongation of QT interval at surface ECG, T-wave abnormalities, and high risk of life-threatening arrhythmias in otherwise healthy young individuals. Currently the LQTS diagnosis is genetically confirmed in nearly 75–85% of LQTS patients, revealing a good knowledge of the genetic bases of the disease. The main LQTS genes are KCNQ1, KCNH2, and SCN5A encoding potassium and sodium cardiac ion channels responsible of the cardiac action potential duration. Minor contributors of LQTS genetic background include genes encoding other cardiac ion channels, ancillary subunits, and protein components forming channels’ macromolecular complexes. Fetal and neonatal forms of LQTS are the most aggressive form of the disease, frequently associated with typical ECG features as very prolonged QTc, 2:1 functional atrioventricular block, T-wave alternans, and life-threatening arrhythmias. The genetic basis of these early-onset cases is peculiar. Indeed, while potassium channel mutations are the most commonly observed causes of adult LQTS, fetal and neonatal forms of the disease are mainly due to aggressive sodium channel mutations or to mutations affecting calcium channel activity, as in Timothy syndrome, triadin knockout syndrome, and calmodulin-LQTS. Aggressive forms of LQTS can also cause sudden infant death syndrome (SIDS) or intrauterine fetal death.
Capitolo o saggio
Cardiac Disease, Genetics, Long QT syndrome, fetal form, adult form
English
Genetic Causes of Cardiac Disease
2019
978-3-030-27370-5
7
Jeanette Erdmann and Alessandra Moretti
1
43
Crotti, L., Ghidoni, A., Dagradi, F. (2019). Genetic of adult and fetal forms of Long QT Syndrome.. In Genetic Causes of Cardiac Disease (pp. 1-43). Jeanette Erdmann and Alessandra Moretti [10.1007/978-3-030-27371-2_1].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/263409
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