Kim Wan Cheol, Lemire Edmond, Nosib Siddarth, Nosib Shravankumar
Department of Medicine, University of Dalhousie, Halifax, Nova Scotia, Canada.
Division of Medical Genetics, University of Saskatchewan, Royal University Hospital, Saskatoon, Saskatchewan, Canada.
CJC Open. 2021 Jun 16;3(11):1383-1387. doi: 10.1016/j.cjco.2021.06.005. eCollection 2021 Nov.
A novel frameshift mutation in the 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 gene, D896Rfs X79. We explore the pathogenicity and clinical impact of this variant mutation.
一名49岁因急性静脉曲张出血接受奥曲肽和纳多洛尔治疗的患者发生尖端扭转型室性心动过速后，在长QT综合征2型（LQTS2）基因中发现了一种新的移码突变。尽管停用了致病药物，并纠正了潜在的电解质异常，但患者的QT间期仍延长至521毫秒，这引发了对潜在离子通道病的怀疑。基因研究证实该基因存在一种新的移码突变D896Rfs X79的杂合性。我们探讨了这种变异突变的致病性和临床影响。
