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| 1 | Pacemaker implantation in a patient with brugada and sick sinus syndrome显示文摘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 wastreated 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 | Bjarke Risgaard Henning Bundgaard Reza Jabbari Stig HaunsФ Bo Gregers Winkel Jacob Tfelt-Hansen | 2013 | World Journal of Cardiology2013，5，3： | 1 |
| 2 | Adult-onset familial hypertrophic cardiomyopathy caused by a noval mutation,R694C,in the MYH7gene显示文摘 | Andersen PS Havndrup O Bundgaard H | 1999 | Clin Genet1999，56，3： | 1 |
| 3 | Endotoxemia stimulates skeletal muscle Na+-K+-ATPase and raises blood lactate under aerbic conditions in humans显示文摘 | Bundgaard H Kjeldsen K Suarez Krabbe K | 2003 | Am J Physiol Heart Circ Physiol2003，284，3： | 1 |
| 4 | Effects of locally applied vascular endothelial growth factor and VEGF-inhibitor to the rabbit tibia during distraction osteogenesis显示文摘 | Henrik E Kristian G Bundgaard M | 2003 | J Orthop Res2003，21，： | 1 |
| 5 | Potassium depletion increases potassium clearance capacity in skeletal muscles in vivo during acute repletion显示文摘 | Bundgaard H Kjeldsen K | 2002 | Am J Physiol Cell Physiol2002，283，4： | 1 |
| 6 | Long-term results after secondary bone grafting of alveolar clefts显示文摘 | Enemark H Sindet-Pedersen S Bundgaard M | 1987 | J Oral Maxillofac Surg1987，45，6： | 1 |
| 7 | Effects of parathyroid hormone on newly regenerated bone during dis- traction osteogenesis in a rabbit tibial lengthening model 显示文摘 | Aleksyniene R Eckardt H Bundgaard K | 2006 | Medicina(Kaunas)2006，42，1： | 1 |
| 8 | Effects of locally applied vascular endothelial growth factor (VEGF) and VEGF-inhibitor to the rabbit tibia during distraction osteogenesis 显示文摘 | Eckardt H Bundgaard KG Christensen KS | 2003 | J Orthop Res2003，21，2： | 1 |
| 9 | Effects of locally applied vascular endothelial growth factor (VEGF) and VEGF 2 inhibitor to the rabbit tibia during distraction osteogenesis显示文摘 | Eckardt H Bundgaard KG Christensen KS | 2003 | J Orhop Res2003，21，2： | 1 |
| 10 | Long-term results of secondary bone grafting of alveolar clefts 显示文摘 | Enemark H Sindet-pedersen S Bundgaard M | 1987 | J Oral Maxillofac Surg1987，45，11： | 1 |
| 11 | Effects of locally applied vascular endothelial grow the factor(VEGF) and VEGF-inhibitor to the rabbit tibia during distraction osteogenesis显示文摘 | Eckardt H Bundgaard KG Christensen KS | 2003 | J Orthop Res2003，21，2： | 1 |
| 12 | Flow-related techniques for preoperative goal-directed fluid optimization显示文摘 | Bundgaard NM Ruhnau B Secher NH | | 0，，01： | 1 |
| 13 | Effects of parathyroid hormone on newly regenerated bone during distraction osteogenesis in a rabbit tibial lengthening model显示文摘 | Aleksyniene R Eckardt H Bundgaard K | 2006 | A pilot study Medicina2006，，1： | 1 |
| 14 | Environmental dependence of inbreeding depression and purging in Drosophila melanogaster 显示文摘 | Bijlsma R Bundgaard J Putten W F V | 1999 | J Evol Biol1999，12，6： | 1 |
| 15 | The neuronal microenvironment:a comparative view显示文摘 | Cserr HF Bundgaard M | 1986 | Ann N Y Acad Sci1986，481，： | 1 |
| 16 | Long-term resuits after secondary bone grafting of alveolar clefts 显示文摘 | Enemark H Sindet-Pedersen S Bundgaard M | 1987 | J Oral Maxillofac Surg1987，45，11： | 1 |
| 17 | Long-term results after secondary bone grafting of alveolar clefts显示文摘 | Enemark H Sindet-Pedersen S Bundgaard M | 1987 | J Oral Maxillofac Surg1987，45，11： | 1 |
| 18 | Potassium depletion increases potassium clearance capacity in skeletal muscles in vivo during acute repletion 显示文摘 | Bundgaard H Kjeldsen K | 2002 | Am J Physiol Cell Physiol2002，283，4： | 1 |
| 19 | Low band gap polymers for organic photovoltaics显示文摘 | Bundgaard E Krebs F C | 2007 | Solar Energy Mater Solar Ceils2007，91，： | 1 |
| 20 | Wide spectrum of desmosomal mutations in danish patients with arrhythmogenic right ventricular cardiomyopathy显示文摘 | Christensen AH Benn M Bundgaard H | 2010 | J Med Genet2010，47，11： | 1 |
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