Brugada syndrome A new mutation found in Norway英文文献资料.docVIP

Open Journal of Internal Medicine, 2012, 2, 183-185 OJIM /10.4236/ojim.2012.23029 Published Online September 2012 (http://www.SciRP.org/journal/ojim/) Brugada syndrome: A new mutation found in Norway* 1,2# 2,3 4 1 1,3 Eva-Lill Rice , Jan P. Loennechen , Trond P. Leren , Johnny Vegsundv?g , Torstein Hole 1 2 3 4 Medical Department, ?lesund Hospital, ?lesund, Norway Department of Cardiology, St. Olavs Hospital, Trondheim, Norway Norwegian University of Science and Tehcnology (NTNU), Trondheim, Norway Medical Genetics Laboratory, Oslo University Hospital Rikshospitalet, Oslo, Norway Email: eva-lill.rice@stolav.no # Received 12 March 2012; revised 12 April 2012; accepted 20 April 2012 ABSTRACT 2002 and 2005 [3] as reviewed in the discussion part of this paper. The syndrome can cause ventricular tachycardia (VT) and sudden death. It is also associated with supraven- tricular arrhythmias. Treatment is aimed at prevention of arrythmias, eva- luation of the need for implantation of an ICD, as well as genetic counselling [4,5]. Brugada syndrome is increasingly recognized as a clinical syndrome world wide. We report a case with a new SCN5A mutation. As the awareness of this disease entity increases more cases will probably be found. Keywords: Brugada Syndrome; SCN5A; Mutation 2. CASE PRESENTATION 1. INTRODUCTION A 19 year old male was admitted to our clinic. He was unconscious upon arrival, Glasgow Coma Score of 3, improving to 15 over the next 4 hours. The patient was pyretic but otherwise stable. A suspected intake of amitriptyline was later disproven. Prehospital treatment had included resuscitation due to circulatory collapse and a 50 J DC cardioversion, reported to terminate an ob- served supravent