A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points
A novel frameshift mutation in the KCNH2 gene for long QT syndrome type 2 (LQTS2) was identified after torsades des pointes ventricular tachycardia in a 49-year-old patient managed with octreotide and nadolol for an acute variceal bleed. In spite of removal of offending medications, and correction o...
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2021
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oai:doaj.org-article:8277df5db7aa427289eeecfc6dac88f22021-11-30T04:17:20ZA Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points2589-790X10.1016/j.cjco.2021.06.005https://doaj.org/article/8277df5db7aa427289eeecfc6dac88f22021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2589790X2100158Xhttps://doaj.org/toc/2589-790XA novel frameshift mutation in the KCNH2 gene for long QT syndrome type 2 (LQTS2) was identified after torsades des pointes ventricular tachycardia in a 49-year-old patient managed with octreotide and nadolol for an acute variceal bleed. In spite of removal of offending medications, and correction of underlying electrolyte abnormalities, the patient’s QT interval remained prolonged—at 521 ms—raising the suspicion of an underlying channelopathy. Genetic studies confirmed heterozygosity for a novel frameshift mutation for the KCNH2 gene, D896Rfs X79. We explore the pathogenicity and clinical impact of this variant mutation. Résumé: Une nouvelle mutation de changement de phase du gène KCNH2 impliqué dans le syndrome du QT long de type 2 (SQTL2) a été trouvée après une tachycardie ventriculaire à torsades de pointes chez un patient de 49 ans traité par octréotide et nadolol en raison d’un saignement variqueux en phase aiguë. En dépit du retrait des médicaments mis en cause et de la correction des anomalies électrolytiques sous-jacentes, l’intervalle du QT du patient qui demeurait prolongé (à 521 ms) a suscité la suspicion d’une canalopathie sous-jacente. Des études génétiques ont permis de confirmer l’hétérozygosité d’une nouvelle mutation de changement de phase du gène KCNH2, D896Rfs X79. Nous examinons la pathogénicité et les répercussions cliniques de cette mutation du variant.Wan Cheol Kim, MD, FRCPCEdmond Lemire, MD, PhD, FRCPC, FCCMGSiddarth Nosib, BScShravankumar Nosib, MD, FRCPCElsevierarticleDiseases of the circulatory (Cardiovascular) systemRC666-701ENCJC Open, Vol 3, Iss 11, Pp 1383-1387 (2021) |
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Diseases of the circulatory (Cardiovascular) system RC666-701 |
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Diseases of the circulatory (Cardiovascular) system RC666-701 Wan Cheol Kim, MD, FRCPC Edmond Lemire, MD, PhD, FRCPC, FCCMG Siddarth Nosib, BSc Shravankumar Nosib, MD, FRCPC A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points |
| description |
A novel frameshift mutation in the KCNH2 gene for long QT syndrome type 2 (LQTS2) was identified after torsades des pointes ventricular tachycardia in a 49-year-old patient managed with octreotide and nadolol for an acute variceal bleed. In spite of removal of offending medications, and correction of underlying electrolyte abnormalities, the patient’s QT interval remained prolonged—at 521 ms—raising the suspicion of an underlying channelopathy. Genetic studies confirmed heterozygosity for a novel frameshift mutation for the KCNH2 gene, D896Rfs X79. We explore the pathogenicity and clinical impact of this variant mutation. Résumé: Une nouvelle mutation de changement de phase du gène KCNH2 impliqué dans le syndrome du QT long de type 2 (SQTL2) a été trouvée après une tachycardie ventriculaire à torsades de pointes chez un patient de 49 ans traité par octréotide et nadolol en raison d’un saignement variqueux en phase aiguë. En dépit du retrait des médicaments mis en cause et de la correction des anomalies électrolytiques sous-jacentes, l’intervalle du QT du patient qui demeurait prolongé (à 521 ms) a suscité la suspicion d’une canalopathie sous-jacente. Des études génétiques ont permis de confirmer l’hétérozygosité d’une nouvelle mutation de changement de phase du gène KCNH2, D896Rfs X79. Nous examinons la pathogénicité et les répercussions cliniques de cette mutation du variant. |
| format |
article |
| author |
Wan Cheol Kim, MD, FRCPC Edmond Lemire, MD, PhD, FRCPC, FCCMG Siddarth Nosib, BSc Shravankumar Nosib, MD, FRCPC |
| author_facet |
Wan Cheol Kim, MD, FRCPC Edmond Lemire, MD, PhD, FRCPC, FCCMG Siddarth Nosib, BSc Shravankumar Nosib, MD, FRCPC |
| author_sort |
Wan Cheol Kim, MD, FRCPC |
| title |
A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points |
| title_short |
A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points |
| title_full |
A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points |
| title_fullStr |
A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points |
| title_full_unstemmed |
A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points |
| title_sort |
novel frameshift mutation, kcnh2 [p.asp896argfsx79], leading to malignant ventricular arrhythmia, identified after treatment of gastrointestinal bleedingnovel teaching points |
| publisher |
Elsevier |
| publishDate |
2021 |
| url |
https://doaj.org/article/8277df5db7aa427289eeecfc6dac88f2 |
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