Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?
Aims Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to establish...
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| Veröffentlicht in: | European heart journal 2007-03, Vol.28 (5), p.575-580 |
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| creator | Hofman, Nynke Wilde, Arthur A.M. Kääb, Stefan van Langen, Irene M. Tanck, Michael W.T. Mannens, Marcel M.A.M. Hinterseer, Martin Beckmann, Britt-Maria Tan, Hanno L. |
| description | Aims Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to establish the predictive power of the Schwartz and Keating criteria, using DNA testing as a reference, and to determine the best diagnostic strategy.
Methods and results We studied 513 relatives (aged >10 years) of 77 consecutive LQTS probands with a known disease-causing mutation. The Schwartz criteria identified 'high probability of LQTS' (score ≥4) in 41 of 208 mutation carriers, yielding 19% sensitivity and 99% specificity. The Keating criteria had 36% sensitivity and 99% specificity. Alternatively, by analysing QTc duration alone, we found that 430 ms is the optimal cut-off value to distinguish carriers (≥430 ms) from non-carriers ( |
| doi_str_mv | 10.1093/eurheartj/ehl355 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_70253913</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><oup_id>10.1093/eurheartj/ehl355</oup_id><sourcerecordid>1328571411</sourcerecordid><originalsourceid>FETCH-LOGICAL-c498t-4f5836b8b88d2d91e2d692cd85b0956953ea8a4b5561821e6d2cff4812bddb023</originalsourceid><addsrcrecordid>eNqFkUGLFDEQhYMo7jh69yRB0Iu0m6Q7mcSLyKqrsCDCCt6adFK9kyGdjJVulvn3RmZwYS97qjp871XxHiEvOXvPmWnPYcEtWJx357CNrZSPyIpLIRqjOvmYrBg3slFK_z4jz0rZMca04uopOeMbZpjickXwc7A3KZc5OOowzIDB0jEjdTndQAqzjTTWlf68puWQPOYJaEh03gIFtDSPdMoR3BIt0iqAalQ-UJ_pLdAE4KmlxWUM1aIcygzTx-fkyWhjgRenuSa_vn65vvjWXP24_H7x6apxndFz041St2rQg9ZeeMNBeGWE81oOzEhlZAtW226QUnEtOCgv3Dh2movB-4GJdk3eHn33mP8sUOZ-CsVBjDZBXkq_YUK2hrcVfH0P3OUFU_2tF1xKtmklqxA7Qg5zKQhjv8cwWTz0nPX_yuj_l9Efy6iSVyffZZjA3wlO6VfgzQmwxdk4ok0ulDtOK8Z4TWFN3h25vOwfPvsX7EOk-A</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>215507350</pqid></control><display><type>article</type><title>Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?</title><source>Oxford University Press Journals All Titles (1996-Current)</source><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Hofman, Nynke ; Wilde, Arthur A.M. ; Kääb, Stefan ; van Langen, Irene M. ; Tanck, Michael W.T. ; Mannens, Marcel M.A.M. ; Hinterseer, Martin ; Beckmann, Britt-Maria ; Tan, Hanno L.</creator><creatorcontrib>Hofman, Nynke ; Wilde, Arthur A.M. ; Kääb, Stefan ; van Langen, Irene M. ; Tanck, Michael W.T. ; Mannens, Marcel M.A.M. ; Hinterseer, Martin ; Beckmann, Britt-Maria ; Tan, Hanno L.</creatorcontrib><description>Aims Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to establish the predictive power of the Schwartz and Keating criteria, using DNA testing as a reference, and to determine the best diagnostic strategy.
Methods and results We studied 513 relatives (aged >10 years) of 77 consecutive LQTS probands with a known disease-causing mutation. The Schwartz criteria identified 'high probability of LQTS' (score ≥4) in 41 of 208 mutation carriers, yielding 19% sensitivity and 99% specificity. The Keating criteria had 36% sensitivity and 99% specificity. Alternatively, by analysing QTc duration alone, we found that 430 ms is the optimal cut-off value to distinguish carriers (≥430 ms) from non-carriers (<430 ms), yielding 72% sensitivity and 86% specificity (area under the curve 0.788).
Conclusion The existing clinical criteria have good specificity in identifying mutation carriers. However, their sensitivity is too low for clinical use. Analysis of QTc duration alone is more useful to screen for LQTS carriership (QTc ≥ 430 ms) as its sensitivity is far superior, although its specificity remains acceptable. In genotyped families, genetic testing is the preferred diagnostic test.</description><identifier>ISSN: 0195-668X</identifier><identifier>EISSN: 1522-9645</identifier><identifier>DOI: 10.1093/eurheartj/ehl355</identifier><identifier>PMID: 17090615</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; Cardiac dysrhythmias ; Cardiology. Vascular system ; Child ; Electrocardiography ; Female ; Genetic Carrier Screening ; Heart ; Heterozygote ; Humans ; Long QT Syndrome - diagnosis ; Long QT Syndrome - genetics ; Male ; Medical sciences ; Middle Aged ; Molecular Diagnostic Techniques - methods ; Mutation - genetics ; Sensitivity and Specificity</subject><ispartof>European heart journal, 2007-03, Vol.28 (5), p.575-580</ispartof><rights>The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org 2007</rights><rights>2007 INIST-CNRS</rights><rights>The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-4f5836b8b88d2d91e2d692cd85b0956953ea8a4b5561821e6d2cff4812bddb023</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1584,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18600158$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17090615$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hofman, Nynke</creatorcontrib><creatorcontrib>Wilde, Arthur A.M.</creatorcontrib><creatorcontrib>Kääb, Stefan</creatorcontrib><creatorcontrib>van Langen, Irene M.</creatorcontrib><creatorcontrib>Tanck, Michael W.T.</creatorcontrib><creatorcontrib>Mannens, Marcel M.A.M.</creatorcontrib><creatorcontrib>Hinterseer, Martin</creatorcontrib><creatorcontrib>Beckmann, Britt-Maria</creatorcontrib><creatorcontrib>Tan, Hanno L.</creatorcontrib><title>Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?</title><title>European heart journal</title><addtitle>Eur Heart J</addtitle><description>Aims Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to establish the predictive power of the Schwartz and Keating criteria, using DNA testing as a reference, and to determine the best diagnostic strategy.
Methods and results We studied 513 relatives (aged >10 years) of 77 consecutive LQTS probands with a known disease-causing mutation. The Schwartz criteria identified 'high probability of LQTS' (score ≥4) in 41 of 208 mutation carriers, yielding 19% sensitivity and 99% specificity. The Keating criteria had 36% sensitivity and 99% specificity. Alternatively, by analysing QTc duration alone, we found that 430 ms is the optimal cut-off value to distinguish carriers (≥430 ms) from non-carriers (<430 ms), yielding 72% sensitivity and 86% specificity (area under the curve 0.788).
Conclusion The existing clinical criteria have good specificity in identifying mutation carriers. However, their sensitivity is too low for clinical use. Analysis of QTc duration alone is more useful to screen for LQTS carriership (QTc ≥ 430 ms) as its sensitivity is far superior, although its specificity remains acceptable. In genotyped families, genetic testing is the preferred diagnostic test.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Cardiac dysrhythmias</subject><subject>Cardiology. Vascular system</subject><subject>Child</subject><subject>Electrocardiography</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Heart</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Long QT Syndrome - diagnosis</subject><subject>Long QT Syndrome - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular Diagnostic Techniques - methods</subject><subject>Mutation - genetics</subject><subject>Sensitivity and Specificity</subject><issn>0195-668X</issn><issn>1522-9645</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUGLFDEQhYMo7jh69yRB0Iu0m6Q7mcSLyKqrsCDCCt6adFK9kyGdjJVulvn3RmZwYS97qjp871XxHiEvOXvPmWnPYcEtWJx357CNrZSPyIpLIRqjOvmYrBg3slFK_z4jz0rZMca04uopOeMbZpjickXwc7A3KZc5OOowzIDB0jEjdTndQAqzjTTWlf68puWQPOYJaEh03gIFtDSPdMoR3BIt0iqAalQ-UJ_pLdAE4KmlxWUM1aIcygzTx-fkyWhjgRenuSa_vn65vvjWXP24_H7x6apxndFz041St2rQg9ZeeMNBeGWE81oOzEhlZAtW226QUnEtOCgv3Dh2movB-4GJdk3eHn33mP8sUOZ-CsVBjDZBXkq_YUK2hrcVfH0P3OUFU_2tF1xKtmklqxA7Qg5zKQhjv8cwWTz0nPX_yuj_l9Efy6iSVyffZZjA3wlO6VfgzQmwxdk4ok0ulDtOK8Z4TWFN3h25vOwfPvsX7EOk-A</recordid><startdate>20070301</startdate><enddate>20070301</enddate><creator>Hofman, Nynke</creator><creator>Wilde, Arthur A.M.</creator><creator>Kääb, Stefan</creator><creator>van Langen, Irene M.</creator><creator>Tanck, Michael W.T.</creator><creator>Mannens, Marcel M.A.M.</creator><creator>Hinterseer, Martin</creator><creator>Beckmann, Britt-Maria</creator><creator>Tan, Hanno L.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>IQODW</scope><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>7QP</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>20070301</creationdate><title>Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?</title><author>Hofman, Nynke ; Wilde, Arthur A.M. ; Kääb, Stefan ; van Langen, Irene M. ; Tanck, Michael W.T. ; Mannens, Marcel M.A.M. ; Hinterseer, Martin ; Beckmann, Britt-Maria ; Tan, Hanno L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-4f5836b8b88d2d91e2d692cd85b0956953ea8a4b5561821e6d2cff4812bddb023</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Cardiac dysrhythmias</topic><topic>Cardiology. Vascular system</topic><topic>Child</topic><topic>Electrocardiography</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Heart</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Long QT Syndrome - diagnosis</topic><topic>Long QT Syndrome - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular Diagnostic Techniques - methods</topic><topic>Mutation - genetics</topic><topic>Sensitivity and Specificity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hofman, Nynke</creatorcontrib><creatorcontrib>Wilde, Arthur A.M.</creatorcontrib><creatorcontrib>Kääb, Stefan</creatorcontrib><creatorcontrib>van Langen, Irene M.</creatorcontrib><creatorcontrib>Tanck, Michael W.T.</creatorcontrib><creatorcontrib>Mannens, Marcel M.A.M.</creatorcontrib><creatorcontrib>Hinterseer, Martin</creatorcontrib><creatorcontrib>Beckmann, Britt-Maria</creatorcontrib><creatorcontrib>Tan, Hanno L.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>European heart journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hofman, Nynke</au><au>Wilde, Arthur A.M.</au><au>Kääb, Stefan</au><au>van Langen, Irene M.</au><au>Tanck, Michael W.T.</au><au>Mannens, Marcel M.A.M.</au><au>Hinterseer, Martin</au><au>Beckmann, Britt-Maria</au><au>Tan, Hanno L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?</atitle><jtitle>European heart journal</jtitle><addtitle>Eur Heart J</addtitle><date>2007-03-01</date><risdate>2007</risdate><volume>28</volume><issue>5</issue><spage>575</spage><epage>580</epage><pages>575-580</pages><issn>0195-668X</issn><eissn>1522-9645</eissn><abstract>Aims Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to establish the predictive power of the Schwartz and Keating criteria, using DNA testing as a reference, and to determine the best diagnostic strategy.
Methods and results We studied 513 relatives (aged >10 years) of 77 consecutive LQTS probands with a known disease-causing mutation. The Schwartz criteria identified 'high probability of LQTS' (score ≥4) in 41 of 208 mutation carriers, yielding 19% sensitivity and 99% specificity. The Keating criteria had 36% sensitivity and 99% specificity. Alternatively, by analysing QTc duration alone, we found that 430 ms is the optimal cut-off value to distinguish carriers (≥430 ms) from non-carriers (<430 ms), yielding 72% sensitivity and 86% specificity (area under the curve 0.788).
Conclusion The existing clinical criteria have good specificity in identifying mutation carriers. However, their sensitivity is too low for clinical use. Analysis of QTc duration alone is more useful to screen for LQTS carriership (QTc ≥ 430 ms) as its sensitivity is far superior, although its specificity remains acceptable. In genotyped families, genetic testing is the preferred diagnostic test.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>17090615</pmid><doi>10.1093/eurheartj/ehl355</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Biological and medical sciences Cardiac dysrhythmias Cardiology. Vascular system Child Electrocardiography Female Genetic Carrier Screening Heart Heterozygote Humans Long QT Syndrome - diagnosis Long QT Syndrome - genetics Male Medical sciences Middle Aged Molecular Diagnostic Techniques - methods Mutation - genetics Sensitivity and Specificity |
| title | Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? |
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