KCNH2 변이가 확인된 2형 선천성 QT 간격 연장 증후군 1예

• 영문명: Type 2 Congenital Long QT Syndrome with KCNH2 Mutation
• 발행기관: 조선대학교 의학연구원
• 저자명: 김병기(Byeong-Ki Kim) 김기훈(Ki-Hoon Kim) 박만제(Man-Je Park) 옥혜성(Hea-Sung Ock) 이현수(Hyoun-Soo Lee) 오주현(Ju-Hyu
• 간행물 정보: 『The Medical Journal of Chosun University』제38권 제2호, 81~84쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.07.31

영문 초록

A 41-year-old woman arrived at our emergency department with semicomatous mentality due to aborted cardiac arrest from ventricular fibrillation, which occurred during resting state. Prolonged QT interval in condition of hypokalemia and hypomagnesemia was observed on initial electrocardiography. However, even after normalization of serum potassium, magnesium and mentality, QT prolongation was sustained. In addition, genetic analysis showed KCNH2 mutation which was consistent with type 2 congenital long QT syndrome (LQTS). In this case, the patient was treated with an implantable cardioverter defibrillator and genotype specific medical therapy with potassium channel opener.

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키워드

Long QT syndrome Torsades de pointes Defibrillators Implantable sudden cardiac death or VF