A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal Bleeding
Autor: | Siddarth Aryaman Nosib, Shravankumar Nosib, Wan Cheol Kim, Edmond G. Lemire |
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Rok vydání: | 2021 |
Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry Long QT syndrome Case Report Torsades de pointes A300 Bleed medicine.disease Ventricular tachycardia QT interval Gastroenterology Frameshift mutation Channelopathy Internal medicine Mutation (genetic algorithm) medicine Cardiology and Cardiovascular Medicine business |
Zdroj: | CJC Open |
ISSN: | 2589-790X |
Popis: | A novel frameshift mutation in the KCNH2 gene for Long QT Syndrome Type 2 (LQTS2) was identified after Torsades de Pointes ventricular tachycardia (TdP VT) in a 49-year old patient managed with octreotide and nadolol for an acute variceal bleed. Inspite 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 KCNH2 gene, D896Rfs X79. We explore the pathogenicity and clinical impact of this variant mutation. |
Databáze: | OpenAIRE |
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