Notched T Waves on Holter Recordings Enhance Detection of Patients With LQT2 (HERG) Mutations
J. M. Lupoglazoff,Isabelle Denjoy,Myriam Berthet,Nathalie Neyroud,L. Demay,P. Richard,Bernard Hainque,Guy Vaksmann,Didier Klug,Antoine Leenhardt,G. Maillard,Philippe Coumel,Pascale Guicheney +12 more
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TLDR
This study provides novel evidence that Holter recording analysis is superior to the 12-lead ECG in detecting G1 and G2 T-wave notches, with G2 notches being most specific and often reflecting HERG core domain missense mutations.Abstract:
Background—The 2 genes KCNQ1 (LQT1) and HERG (LQT2), encoding cardiac potassium channels, are the most common cause of the dominant long-QT syndrome (LQTS). In addition to QT-interval prolongation, notched T waves have been proposed as a phenotypic marker of LQTS patients. Methods and Results—The T-wave morphology of carriers of mutations in KCNQ1 (n=133) or HERG (n=57) and of 100 control subjects was analyzed from Holter ECG recordings. Averaged T-wave templates were obtained at different cycle lengths, and potential notched T waves were classified as grade 1 (G1) in case of a bulge at or below the horizontal, whatever the amplitude, and as grade 2 (G2) in case of a protuberance above the horizontal. The highest grade obtained from a template defined the notch category of the subject. T-wave morphology was normal in the majority of LQT1 and control subjects compared with LQT2 (92%, 96%, and 19%, respectively, P<0.001). G1 notches were relatively more frequent in LQT2 (18% versus 8% [LQT1] and 4% [control...read more
Citations
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Journal ArticleDOI
The genetic basis of long QT and short QT syndromes: a mutation update.
Paula L. Hedley,Paula L. Hedley,Poul Jørgensen,Poul Jørgensen,Sarah Schlamowitz,Romilda Wangari,Johanna C. Moolman-Smook,Paul A. Brink,Jørgen K. Kanters,Valerie A. Corfield,Michael Christiansen +10 more
TL;DR: The present mutation update is a comprehensive description of all known LQTS‐ and SQTS‐associated mutations.
Journal ArticleDOI
Congenital long QT syndrome
TL;DR: The prognosis of the disease is usually good in patients that are correctly diagnosed and treated, and borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria.
Journal ArticleDOI
Refining detection of drug-induced proarrhythmia: QT interval and TRIaD
Rashmi R. Shah,Luc M. Hondeghem +1 more
TL;DR: Detecting drug-induced augmentation of TRIaD may offer an additional, more sensitive, and accurate indicator of the broader proarrhythmic potential of a drug than may QT interval prolongation alone.
Journal ArticleDOI
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
TL;DR: While phenotypic ascertainment remains a mainstay in the clinical setting, SSCP and DHPLC-aided DNA sequencing are a standard part of mutational investigation, and direct sequencing on a limited basis is now commercially available for patient diagnosis.
Journal ArticleDOI
Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome
Wataru Shimizu,Takashi Noda,Hiroshi Takaki,Noritoshi Nagaya,Kazuhiro Satomi,Takashi Kurita,Kazuhiro Suyama,Naohiko Aihara,Kenji Sunagawa,Shigeyuki Echigo,Yoshihiro Miyamoto,Yasunao Yoshimasa,Kazufumi Nakamura,Tohru Ohe,Jeffrey A. Towbin,Silvia G. Priori,Shiro Kamakura +16 more
TL;DR: Epinephrine infusion is a powerful test to predict the genotype of LQT1, L QT2, and LQt3 syndromes as well as to improve the clinical diagnosis of genotype-positive patients, especially those with LqT1 syndrome.
References
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Journal ArticleDOI
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
Mark E. Curran,Igor Splawski,Katherine W. Timothy,Vincent Gm,Eric D. Green,Keating Mt,Keating Mt +6 more
TL;DR: In this article, the authors investigated patients with long QT syndrome (LQT), an inherited disorder causing sudden death from a ventricular tachyarrythmia, torsade de pointes.
Journal ArticleDOI
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Qing Wang,Mark E. Curran,Igor Splawski,Timothy C. Burn,J. M. Millholland,T. J. VanRaay,Jiaxiang Shen,Katherine W. Timothy,Vincent Gm,Vincent Gm,T. De Jager,Peter J. Schwartz,J.A. Towbin,Arthur J. Moss,Donald L. Atkinson,Gregory M. Landes,Timothy D. Connors,M T Keating +17 more
TL;DR: In this article, positional cloning was used to establish KVLQT1 as the chromosome 11-linked LQT 1 gene responsible for the most common inherited cardiac arrhythmia.
Journal ArticleDOI
Diagnostic criteria for the long QT syndrome. An update.
TL;DR: The availability of effective therapy for this often lethal disease emphasizes the importance of early and accurate diagnosis, and there is frequently a delay in the diagnosis of LQTS, and patients with syncope are often misdiagnosed.
Journal ArticleDOI
Cellular Basis for the Normal T Wave and the Electrocardiographic Manifestations of the Long-QT Syndrome
Gan-Xin Yan,Charles Antzelevitch +1 more
TL;DR: The authors' data suggest that the "pathophysiological U" wave observed in acquired or congenital LQTS is more likely to be a second component of an interrupted T wave, and argue for use of the term T2 in place of U to describe this event.
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