The genetic basis of long QT and short QT syndromes: a mutation update
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The genetic basis of long QT and short QT syndromes: a mutation update. / Hedley, Paula L; Jørgensen, Poul; Schlamowitz, Sarah; Wangari, Romilda; Moolman-Smook, Johanna; Brink, Paul A; Kanters, Jørgen K; Corfield, Valerie A; Christiansen, Michael.
In: Human Mutation, Vol. 30, No. 11, 2009, p. 1486-511.Research output: Contribution to journal › Journal article › Research › peer-review
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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
VL - 30
SP - 1486
EP - 1511
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 11
ER -
ID: 18763845