Inherited long QT syndrome: Clinical manifestation, genetic diagnostics, and therapy
Inherited long QT syndrome (LQTS) is characterized by a prolonged ventricular repolarization (QTc interval) and symptoms (syncope, sudden cardiac arrest) due to polymorphic ventricular arrhythmias. As of today, 13 different cardiac ion channel genes have been associated with congenital LQTS. The mos...
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| Veröffentlicht in: | Herzschrittmachertherapie & Elektrophysiologie 2012-09, Vol.23 (3), p.211-219 |
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| container_title | Herzschrittmachertherapie & Elektrophysiologie |
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| creator | Zumhagen, Sven Stallmeyer, Birgit Friedrich, Corinna Eckardt, Lars Seebohm, Guiscard Schulze-Bahr, Eric |
| description | Inherited long QT syndrome (LQTS) is characterized by a prolonged ventricular repolarization (QTc interval) and symptoms (syncope, sudden cardiac arrest) due to polymorphic ventricular arrhythmias. As of today, 13 different cardiac ion channel genes have been associated with congenital LQTS. The most common ones are due to
KCNQ1
(LQT-1),
KCNH2
(LQT-2), and
SCN5A
(LQT-3) gene mutations and account for up to 75 % of cases. Typical clinical findings are an increased QT interval on the surface electrocardiogram, specifically altered T wave morphologies, polymorphic ventricular arrhythmias, or an indicative family history. Recently, in the HRS/EHRA expert consensus statement, comprehensive genetic testing of major LQTS genes was recommended for index patients for whom there is a strong clinical suspicion of LQTS. Overall, antiadrenergic therapy, in particular β-receptor blockers, has been the mainstay of therapy and has significantly reduced cardiac events. For high-risk patients, an implantable cardioverter defibrillator (ICD) is recommended. Importantly, lifestyle modification and avoidance of arrhythmia triggers are additional important approaches. |
| doi_str_mv | 10.1007/s00399-012-0232-8 |
| format | Article |
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KCNQ1
(LQT-1),
KCNH2
(LQT-2), and
SCN5A
(LQT-3) gene mutations and account for up to 75 % of cases. Typical clinical findings are an increased QT interval on the surface electrocardiogram, specifically altered T wave morphologies, polymorphic ventricular arrhythmias, or an indicative family history. Recently, in the HRS/EHRA expert consensus statement, comprehensive genetic testing of major LQTS genes was recommended for index patients for whom there is a strong clinical suspicion of LQTS. Overall, antiadrenergic therapy, in particular β-receptor blockers, has been the mainstay of therapy and has significantly reduced cardiac events. For high-risk patients, an implantable cardioverter defibrillator (ICD) is recommended. Importantly, lifestyle modification and avoidance of arrhythmia triggers are additional important approaches.</description><identifier>ISSN: 0938-7412</identifier><identifier>EISSN: 1435-1544</identifier><identifier>DOI: 10.1007/s00399-012-0232-8</identifier><identifier>PMID: 22996910</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Cardiac Imaging ; Cardiac Surgery ; Cardiology ; Genetic Predisposition to Disease - epidemiology ; Genetic Predisposition to Disease - genetics ; Germany - epidemiology ; Humans ; Incidence ; Long QT Syndrome - diagnosis ; Long QT Syndrome - mortality ; Long QT Syndrome - therapy ; Medicine ; Medicine & Public Health ; Risk Factors ; Schwerpunkt ; Survival Analysis ; Survival Rate</subject><ispartof>Herzschrittmachertherapie & Elektrophysiologie, 2012-09, Vol.23 (3), p.211-219</ispartof><rights>Springer-Verlag 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2118-e644e49702086e8e2828d520979d6f880dff0e69d679044dcba71a67314539d93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00399-012-0232-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00399-012-0232-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22996910$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zumhagen, Sven</creatorcontrib><creatorcontrib>Stallmeyer, Birgit</creatorcontrib><creatorcontrib>Friedrich, Corinna</creatorcontrib><creatorcontrib>Eckardt, Lars</creatorcontrib><creatorcontrib>Seebohm, Guiscard</creatorcontrib><creatorcontrib>Schulze-Bahr, Eric</creatorcontrib><title>Inherited long QT syndrome: Clinical manifestation, genetic diagnostics, and therapy</title><title>Herzschrittmachertherapie & Elektrophysiologie</title><addtitle>Herzschr Elektrophys</addtitle><addtitle>Herzschrittmacherther Elektrophysiol</addtitle><description>Inherited long QT syndrome (LQTS) is characterized by a prolonged ventricular repolarization (QTc interval) and symptoms (syncope, sudden cardiac arrest) due to polymorphic ventricular arrhythmias. As of today, 13 different cardiac ion channel genes have been associated with congenital LQTS. The most common ones are due to
KCNQ1
(LQT-1),
KCNH2
(LQT-2), and
SCN5A
(LQT-3) gene mutations and account for up to 75 % of cases. Typical clinical findings are an increased QT interval on the surface electrocardiogram, specifically altered T wave morphologies, polymorphic ventricular arrhythmias, or an indicative family history. Recently, in the HRS/EHRA expert consensus statement, comprehensive genetic testing of major LQTS genes was recommended for index patients for whom there is a strong clinical suspicion of LQTS. Overall, antiadrenergic therapy, in particular β-receptor blockers, has been the mainstay of therapy and has significantly reduced cardiac events. For high-risk patients, an implantable cardioverter defibrillator (ICD) is recommended. Importantly, lifestyle modification and avoidance of arrhythmia triggers are additional important approaches.</description><subject>Cardiac Imaging</subject><subject>Cardiac Surgery</subject><subject>Cardiology</subject><subject>Genetic Predisposition to Disease - epidemiology</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Germany - epidemiology</subject><subject>Humans</subject><subject>Incidence</subject><subject>Long QT Syndrome - diagnosis</subject><subject>Long QT Syndrome - mortality</subject><subject>Long QT Syndrome - therapy</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Risk Factors</subject><subject>Schwerpunkt</subject><subject>Survival Analysis</subject><subject>Survival Rate</subject><issn>0938-7412</issn><issn>1435-1544</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LAzEQhoMotlZ_gB6kRy_RmSS7SY4ifhQKItRz2G5ma8t-1KR76L83ZatHT8Mwz_vCPIxdI9wjgH6IANJaDig4CCm4OWFjVDLjmCl1ysZgpeFaoRixixg3cMABz9lICGtzizBmN7P2i8J6R35ad-1q-rGYxn3rQ9fQJTurijrS1XFO2OfL8-Lpjc_fX2dPj3NeCkTDKVeKlNUgwORkSBhhfCbAauvzyhjwVQWUp0VbUMqXy0JjkWuJKpPWWzlhd0PvNnTfPcWda9axpLouWur66FBIDcZKnSUUB7QMXYyBKrcN66YIe4fgDkrcoMQlJe6gxJmUuT3W98uG_F_i10ECxADEdGpXFNym60ObXv6n9Qe8lmgx</recordid><startdate>201209</startdate><enddate>201209</enddate><creator>Zumhagen, Sven</creator><creator>Stallmeyer, Birgit</creator><creator>Friedrich, Corinna</creator><creator>Eckardt, Lars</creator><creator>Seebohm, Guiscard</creator><creator>Schulze-Bahr, Eric</creator><general>Springer-Verlag</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201209</creationdate><title>Inherited long QT syndrome</title><author>Zumhagen, Sven ; Stallmeyer, Birgit ; Friedrich, Corinna ; Eckardt, Lars ; Seebohm, Guiscard ; Schulze-Bahr, Eric</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2118-e644e49702086e8e2828d520979d6f880dff0e69d679044dcba71a67314539d93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Cardiac Imaging</topic><topic>Cardiac Surgery</topic><topic>Cardiology</topic><topic>Genetic Predisposition to Disease - epidemiology</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Germany - epidemiology</topic><topic>Humans</topic><topic>Incidence</topic><topic>Long QT Syndrome - diagnosis</topic><topic>Long QT Syndrome - mortality</topic><topic>Long QT Syndrome - therapy</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Risk Factors</topic><topic>Schwerpunkt</topic><topic>Survival Analysis</topic><topic>Survival Rate</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zumhagen, Sven</creatorcontrib><creatorcontrib>Stallmeyer, Birgit</creatorcontrib><creatorcontrib>Friedrich, Corinna</creatorcontrib><creatorcontrib>Eckardt, Lars</creatorcontrib><creatorcontrib>Seebohm, Guiscard</creatorcontrib><creatorcontrib>Schulze-Bahr, Eric</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Herzschrittmachertherapie & Elektrophysiologie</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zumhagen, Sven</au><au>Stallmeyer, Birgit</au><au>Friedrich, Corinna</au><au>Eckardt, Lars</au><au>Seebohm, Guiscard</au><au>Schulze-Bahr, Eric</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inherited long QT syndrome: Clinical manifestation, genetic diagnostics, and therapy</atitle><jtitle>Herzschrittmachertherapie & Elektrophysiologie</jtitle><stitle>Herzschr Elektrophys</stitle><addtitle>Herzschrittmacherther Elektrophysiol</addtitle><date>2012-09</date><risdate>2012</risdate><volume>23</volume><issue>3</issue><spage>211</spage><epage>219</epage><pages>211-219</pages><issn>0938-7412</issn><eissn>1435-1544</eissn><abstract>Inherited long QT syndrome (LQTS) is characterized by a prolonged ventricular repolarization (QTc interval) and symptoms (syncope, sudden cardiac arrest) due to polymorphic ventricular arrhythmias. As of today, 13 different cardiac ion channel genes have been associated with congenital LQTS. The most common ones are due to
KCNQ1
(LQT-1),
KCNH2
(LQT-2), and
SCN5A
(LQT-3) gene mutations and account for up to 75 % of cases. Typical clinical findings are an increased QT interval on the surface electrocardiogram, specifically altered T wave morphologies, polymorphic ventricular arrhythmias, or an indicative family history. Recently, in the HRS/EHRA expert consensus statement, comprehensive genetic testing of major LQTS genes was recommended for index patients for whom there is a strong clinical suspicion of LQTS. Overall, antiadrenergic therapy, in particular β-receptor blockers, has been the mainstay of therapy and has significantly reduced cardiac events. For high-risk patients, an implantable cardioverter defibrillator (ICD) is recommended. Importantly, lifestyle modification and avoidance of arrhythmia triggers are additional important approaches.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>22996910</pmid><doi>10.1007/s00399-012-0232-8</doi><tpages>9</tpages></addata></record> |
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| source | MEDLINE; SpringerLink Journals (MCLS) |
| subjects | Cardiac Imaging Cardiac Surgery Cardiology Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Germany - epidemiology Humans Incidence Long QT Syndrome - diagnosis Long QT Syndrome - mortality Long QT Syndrome - therapy Medicine Medicine & Public Health Risk Factors Schwerpunkt Survival Analysis Survival Rate |
| title | Inherited long QT syndrome: Clinical manifestation, genetic diagnostics, and therapy |
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