Rapid genetic testing facilitating the diagnosis of short QT syndrome

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• 作者：Calum J. Redpath ; MB ChB ; Martin S. Green ; MD ; David H. Birnie ; MD ; Michael H. Gollob ; MD ; ^{mgollob@ottawaheart.ca}
• 关键词：Genetic testing ; Primary electrical disease ; Short QT syndrome ; Sudden cardiac death ; Syncope
• 刊名：Canadian Journal of Cardiology
• 出版年：2009
• 出版时间：April 2009
• 年：2009
• 卷：25
• 期：4
• 页码：e133-e135
• 全文大小：843 K

文摘

Short QT syndrome (SQTS) is a rare genetic disease with a risk of sudden cardiac death. The present report describes syncope in a young man that resulted in a motor vehicle accident. An electrocardiogram and initial investigations were unremarkable, but treadmill testing showed a lack of adaptation of the QT interval, which has been described in SQTS. To evaluate the possible diagnosis of SQTS, DNA sequencing of genes known to be associated with SQTS was performed and identified a novel mutation in the KCNH2 gene. Consequently, the patient was diagnosed with SQTS and the recommendation of implantable cardioverter defibrillator implantation was accepted by the patient before discharge from the hospital.