Case Report
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World J Cardiol. Mar 26, 2013; 5(3): 65-67
Published online Mar 26, 2013. doi: 10.4330/wjc.v5.i3.65
Pacemaker implantation in a patient with brugada and sick sinus syndrome
Bjarke Risgaard, Henning Bundgaard, Reza Jabbari, Stig Haunsø, Bo Gregers Winkel, Jacob Tfelt-Hansen
Bjarke Risgaard, Reza Jabbari, Stig Haunsø, Bo Gregers Winkel, Jacob Tfelt-Hansen, The Danish National Research Foundation Centre for Cardiac Arrhythmia, University of Copenhagen, 2100 Copenhagen, Denmark
Bjarke Risgaard, Henning Bundgaard, Reza Jabbari, Stig Haunsø, Bo Gregers Winkel, Jacob Tfelt-Hansen, Laboratory of Molecular Cardiology, Department of Cardiology, The Heart Centre, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark
Author contributions: Risgaard B and Jabbari R wrote the paper; Bundgaard H delivered information on and did critical revision; Haunsø S gave funding and did critical revision; Tfelt-Hansen J got the idea and together with Winkel BG delivered information on the patients and did critical revision of the manuscript.
Supported by The Danish Heart Foundation (A3790); the Danish National Research Foundation Centre for Cardiac Arrhythmia; the John and Birthe Meyer Foundation; the Research Foundation at the Heart Centre, Rigshopitalet and the Foundation of Edith and Henrik Henriksens mindelegat (50892)
Correspondence to: Bjarke Risgaard, MD, Department of Cardiology, Section 2142, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. bjarkerisgaard@gmail.com
Telephone: +45-35-456501 Fax: +45-35-456500
Received: September 12, 2012
Revised: December 13, 2012
Accepted: January 23, 2013
Published online: March 26, 2013
Processing time: 196 Days and 1.3 Hours
Abstract

Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients with loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope’s. In 2004 sick sinus syndrome was suspected and she was treated with implantation of a pacemaker (PM) at another institution. An inherited cardiac disease was one day suddenly suspected, as the patient had a 61-year old brother who was diagnosed with symptomatic BrS, and treated with an implantable cardioverter defibrillator (ICD) after aborted SCD. A mutation screening revealed a SCN5A [S231CfsX251 (c.692-693delCA)] loss-of-function mutation not previously reported, and as a part of the cascade screening in relatives she was therefore referred to our clinic. In the 7 year period after PM implantation she had experienced no cardiac symptoms, although her electrocardiogram changes now were consistent with a BrS type 1 pattern. A genetic test confirmed that she had the same mutation in SCN5A as her brother. In this case-report we present a loss-of function mutation in SCN5A not previously associated with BrS nor presented in healthy controls. Sinus node dysfunction has previously been documented in patients with symptomatic BrS, which suggests it is not a rare concomitant. The only accepted treatment of BrS is today implantation of an ICD. In the future studies should evaluate if PM in some cases of symptomatic BrS can be used instead of ICDs in patients with a loss-of-function SCN5A mutations

Keywords: Brugada syndrome; Pacemaker; Arrhythmias; Sudden cardiac death