The genetic basis of long QT and short QT syndromes: a mutation update

TY - JOUR

T1 - The genetic basis of long QT and short QT syndromes: a mutation update

AU - Hedley, Paula L

AU - Jørgensen, Poul

AU - Schlamowitz, Sarah

AU - Wangari, Romilda

AU - Moolman-Smook, Johanna

AU - Brink, Paul A

AU - Kanters, Jørgen K

AU - Corfield, Valerie A

AU - Christiansen, Michael

N1 - Keywords: A Kinase Anchor Proteins; Ankyrins; Arrhythmias, Cardiac; Calcium-Binding Proteins; Caveolin 3; Cytoskeletal Proteins; Genotype; Humans; Ion Channels; Long QT Syndrome; Membrane Proteins; Muscle Proteins; Mutation; Syndrome

PY - 2009

Y1 - 2009

N2 - Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization abnormalities that are characterized by length perturbations of the QT interval as measured on electrocardiogram (ECG). Prolonged QT interval and a propensity for ventricular tachycardia of the torsades de pointes (TdP) type are characteristic of LQTS, while SQTS is characterized by shortened QT interval with tall peaked T-waves and a propensity for atrial fibrillation. Both syndromes represent a high risk for syncope and sudden death. LQTS exists as a congenital genetic disease (cLQTS) with more than 700 mutations described in 12 genes (LQT1-12), but can also be acquired (aLQTS). The genetic forms of LQTS include Romano-Ward syndrome (RWS), which is characterized by isolated LQTS and an autosomal dominant pattern of inheritance, and syndromes with LQTS in association with other conditions. The latter includes Jervell and Lange-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). The genetics are further complicated by the occurrence of double and triple heterozygotes in LQTS and a considerable number of nonpathogenic rare polymorphisms in the involved genes. SQTS is a very rare condition, caused by mutations in five genes (SQTS1-5). The present mutation update is a comprehensive description of all known LQTS- and SQTS-associated mutations.

AB - Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization abnormalities that are characterized by length perturbations of the QT interval as measured on electrocardiogram (ECG). Prolonged QT interval and a propensity for ventricular tachycardia of the torsades de pointes (TdP) type are characteristic of LQTS, while SQTS is characterized by shortened QT interval with tall peaked T-waves and a propensity for atrial fibrillation. Both syndromes represent a high risk for syncope and sudden death. LQTS exists as a congenital genetic disease (cLQTS) with more than 700 mutations described in 12 genes (LQT1-12), but can also be acquired (aLQTS). The genetic forms of LQTS include Romano-Ward syndrome (RWS), which is characterized by isolated LQTS and an autosomal dominant pattern of inheritance, and syndromes with LQTS in association with other conditions. The latter includes Jervell and Lange-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). The genetics are further complicated by the occurrence of double and triple heterozygotes in LQTS and a considerable number of nonpathogenic rare polymorphisms in the involved genes. SQTS is a very rare condition, caused by mutations in five genes (SQTS1-5). The present mutation update is a comprehensive description of all known LQTS- and SQTS-associated mutations.

U2 - 10.1002/humu.21106

DO - 10.1002/humu.21106

M3 - Journal article

C2 - 19862833

SN - 1059-7794

VL - 30

SP - 1486

EP - 1511

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -