Genetic and Clinical Advances in Congenital Long QT Syndrome

Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead ECG, torsades de pointes and a higher chance of sudden cardiac death. LQTS segregates in a Mendelian fashion, which includes Romano-Ward syndrome with an autosomal dominant...

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Bibliographic Details
Published in:Circulation Journal 2014/11/25, Vol.78(12), pp.2827-2833
Main Authors: Mizusawa, Yuka, Horie, Minoru, Wilde, Arthur AM
Format: Article
Language:English
Subjects:
Adrenergic beta-Antagonists - therapeutic use
Autonomic Denervation
Beta-blockers
Combined Modality Therapy
Death, Sudden, Cardiac - etiology
Defibrillators, Implantable
Diagnosis
Electrocardiography
Genes, Dominant
Genes, Recessive
Genetic Heterogeneity
Genotype
Humans
Ion channels
Ion Channels - genetics
Long QT syndrome
Long QT Syndrome - classification
Long QT Syndrome - congenital
Long QT Syndrome - diagnosis
Long QT Syndrome - epidemiology
Long QT Syndrome - genetics
Long QT Syndrome - physiopathology
Long QT Syndrome - therapy
Multifactorial Inheritance
Phenotype
Potassium - therapeutic use
Romano-Ward Syndrome - genetics
Syncope - etiology
Torsade de pointes
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Summary:Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead ECG, torsades de pointes and a higher chance of sudden cardiac death. LQTS segregates in a Mendelian fashion, which includes Romano-Ward syndrome with an autosomal dominant pattern as well as a rare autosomal recessive pattern (Jervell and Lange-Nielsen syndrome). Since 1957 when Jervell and Lange-Nielsen reported the first familial LQTS with congenital deafness, progress in understanding the genetic and electrophysiological mechanisms of LQTS has tremendously improved diagnostic methods and treatments. In the meantime, it has become evident that LQTS may not always be explained by a single gene mutation, but seems to follow a more complex genetic model intertwined with genetic common polymorphisms that have a mild to moderate effect on disease expression. In this review, we summarize the characteristics of LQTS (mainly LQT1–3) and briefly describe the most recent advances in LQTS clinical diagnostics as well as genetics. (Circ J 2014; 78: 2827–2833)
ISSN:1346-9843
1347-4820
DOI:10.1253/circj.CJ-14-0905