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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 | The first catalytic asymmetric aza-henry reaction of nitronates with imines:A novel approach to optically activeβ-nitro-α-amino acid-and,β-diamino acid derivatives 显示文摘 | Knudsen K R Risgaard T Nishiwaki N | 2001 | J Am Chem Soc2001，123，24： | 1 |
| 3 | Denitrifi- cation and anaerobic ammonium oxidation in sediments: effects of microphytobenthos and NO3 显示文摘 | Risgaard Petersen N Meyer R L Revsbech N t2 | 2005 | Aquatic Microbi al Ecology2005，40，1： | 1 |
| 4 | Prior myocardial irffaretion in the young: predisposes to a high relative risk but low absolute risk of a sudden cardiac death 显示文摘 | Risgaard B Nielsen JB Jabbari R | 2013 | Europace2013，15，1： | 1 |
| 5 | Burden of Sudden Cardiac Death in Persons Aged 1 to 49 Years: Nationwide Study in Denmark显示文摘 | Bjarke Risgaard Bo Gregers Winkel Reza Jabbari Elijah R. Behr Ole Ingemann-Hansen J?rgen Lange Thomsen Gyda Lolk Ottesen Gunnar H. Gislason Henning Bundgaard Stig Hauns? Anders Gaarsdal Holst Jacob Tfelt-Hansen | 2014 | Circulation: Arrhythmia and Electrophysiology2014，，： | 1 |
| 6 | Cardiac symptoms before sudden cardiac death caused by coronary artery disease: a nationwide study among young Danish people显示文摘 | Jabbari R Risgaard B Hoist AG | 2013 | Heart2013，99，： | 1 |
| 7 | Practical radical cyclizations with arylboronic acida and trifluoroborates 显示文摘 | I_ockner J W Dixon D D Risgaard R | 2011 | Organic Letters2011，13，： | 1 |
| 8 | Sudden cardiac death in children(1-18years):symptoms and causes of death in a nationwide setting显示文摘 | Winkel B G Risgaard B Sadjadieh G | 2014 | Eur Heart J2014，，35： | 1 |
| 9 | Denitrification and anammox activity in Arctic marine sediments显示文摘 | Rysgaard S Glud R N Risgaard P N Dalsgaard T | 2004 | Limnology and Oceanography2004，49，5： | 1 |
| 10 | Diurnal variation of denitrification and nitrification in sediments colonized by benthic microphytes 显示文摘 | Risgaard Petersen N Rysgaard S Nielsen L P | 1994 | The American Society of Limnoiogy and Oceanography1994，39，3： | 1 |
| 11 | Epilepsy and risk of death and sudden unexpected death in the young: a nationwide study显示文摘 | Hoist AG Winkel BG Risgaard B | 2013 | Epilepsia2013，54，： | 1 |
| 12 | The first catalytic asymmetric asa-henry reaction of nitr- onates with imines : A novel approach to optically active β-nitre-a-amino acid- and α, β-diamino acid derivatives显示文摘 | Knudsen K R Risgaard T Nishiwaki N | 2001 | J Am Chem Soc2001，123，： | 1 |
| 13 | Blunt cerebrovas- cular injury: an evaluation from a major trauma centre 显示文摘 | Risgaard O Sugrue M D'Amours S | 2007 | ANZ J Surg2007，77，8： | 1 |
| 14 | Waiting for a pacemaker:is it dangerous?显示文摘 | Risgaard B Elming H Jensen GV | 2012 | Europace2012，14，7： | 1 |
| 15 | Catalytic Asymmetric Henry Reactions of Silyl Nitronates with Aldehydes 显示文摘 | Risgaard T Gothelf K V JCrgensen K V | 2003 | Org Biomol Chem2003，1，： | 1 |
| 16 | Anaerobic ammonium-oxidizing bacteria in marine envi ronments: widespread occurrence but low diversity显示文摘 | Schmid M C Risgaard Petersen N Van De Vossenberg J | 2007 | Envi- ronmental Microbiology2007，9，6： | 1 |
| 17 | Interpretation of measured concentration profiles in sediment pore water 显示文摘 | BERG P RISGAARD P N RYSGAARD S | 1998 | Limnology and Oceanography1998，43，7： | 1 |
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