Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation
Background Congenital long‐QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the corrected QT interval (QTc) on an ECG. The aim of the present study was to estimate the prevalence of pathogenic and likely pathogenic sequence variants in patients who had at least 1 ECG with a...
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| Format: | Article |
| Language: | English |
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Wiley
2018-08-01
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| Series: | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| Subjects: | |
| Online Access: | https://www.ahajournals.org/doi/10.1161/JAHA.118.009706 |
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| author | Charlotte Gibbs Jacob Thalamus Kristian Tveten Øyvind L. Busk Jan Hysing Kristina H. Haugaa Øystein L. Holla |
| author_facet | Charlotte Gibbs Jacob Thalamus Kristian Tveten Øyvind L. Busk Jan Hysing Kristina H. Haugaa Øystein L. Holla |
| author_sort | Charlotte Gibbs |
| collection | DOAJ |
| description | Background Congenital long‐QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the corrected QT interval (QTc) on an ECG. The aim of the present study was to estimate the prevalence of pathogenic and likely pathogenic sequence variants in patients who had at least 1 ECG with a QTc ≥500 ms. Methods and Results Telemark Hospital Trust is a community hospital within the Norwegian national health system, serving ≈173 000 inhabitants. We searched the ECG database at Telemark Hospital Trust, Norway, from January 2004 to December 2014, and identified 1531 patients with at least 1 ECG with a QTc ≥500 ms. At the time of inclusion in this study (2015), 766 patients were alive. A total of 733 patients were invited to participate, and 475 accepted. The 17 genes that have been reported to cause monogenic LQTS were sequenced among the patients. Pro‐QTc score was calculated for each patient. A molecular genetic cause of LQTS was detected in 31 (6.5%) of 475 patients. These patients had a lower pro‐QTc score than those without pathogenic or likely pathogenic variants (1.7±1.0 versus 2.8±1.6; P<0.001). Conclusions Compared with the general population, hospitalized patients with a QTc ≥500 ms in at least 1 ECG recording had an increased likelihood for pathogenic and likely pathogenic variants in LQTS genes. We recommend increased awareness of the possibility of LQTS in patients with at least 1 ECG with a QTc ≥500 ms. |
| first_indexed | 2024-12-22T21:42:15Z |
| format | Article |
| id | doaj.art-98be919e655845e281bb9bf9ebe600e4 |
| institution | Directory Open Access Journal |
| issn | 2047-9980 |
| language | English |
| last_indexed | 2024-12-22T21:42:15Z |
| publishDate | 2018-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| spelling | doaj.art-98be919e655845e281bb9bf9ebe600e42022-12-21T18:11:35ZengWileyJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease2047-99802018-08-0171610.1161/JAHA.118.009706Genetic and Phenotypic Characterization of Community Hospital Patients With QT ProlongationCharlotte Gibbs0Jacob Thalamus1Kristian Tveten2Øyvind L. Busk3Jan Hysing4Kristina H. Haugaa5Øystein L. Holla6Department of Internal Medicine Telemark Hospital Trust Skien NorwayDepartment of Internal Medicine Telemark Hospital Trust Skien NorwayDepartment of Medical Genetics Telemark Hospital Trust Skien NorwayDepartment of Medical Genetics Telemark Hospital Trust Skien NorwayDepartment of Internal Medicine Telemark Hospital Trust Skien NorwayInstitute of Clinical Medicine Faculty of Medicine University of Oslo NorwayDepartment of Medical Genetics Telemark Hospital Trust Skien NorwayBackground Congenital long‐QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the corrected QT interval (QTc) on an ECG. The aim of the present study was to estimate the prevalence of pathogenic and likely pathogenic sequence variants in patients who had at least 1 ECG with a QTc ≥500 ms. Methods and Results Telemark Hospital Trust is a community hospital within the Norwegian national health system, serving ≈173 000 inhabitants. We searched the ECG database at Telemark Hospital Trust, Norway, from January 2004 to December 2014, and identified 1531 patients with at least 1 ECG with a QTc ≥500 ms. At the time of inclusion in this study (2015), 766 patients were alive. A total of 733 patients were invited to participate, and 475 accepted. The 17 genes that have been reported to cause monogenic LQTS were sequenced among the patients. Pro‐QTc score was calculated for each patient. A molecular genetic cause of LQTS was detected in 31 (6.5%) of 475 patients. These patients had a lower pro‐QTc score than those without pathogenic or likely pathogenic variants (1.7±1.0 versus 2.8±1.6; P<0.001). Conclusions Compared with the general population, hospitalized patients with a QTc ≥500 ms in at least 1 ECG recording had an increased likelihood for pathogenic and likely pathogenic variants in LQTS genes. We recommend increased awareness of the possibility of LQTS in patients with at least 1 ECG with a QTc ≥500 ms.https://www.ahajournals.org/doi/10.1161/JAHA.118.009706genetic testinginherited arrhythmialong‐QT syndrome |
| spellingShingle | Charlotte Gibbs Jacob Thalamus Kristian Tveten Øyvind L. Busk Jan Hysing Kristina H. Haugaa Øystein L. Holla Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease genetic testing inherited arrhythmia long‐QT syndrome |
| title | Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation |
| title_full | Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation |
| title_fullStr | Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation |
| title_full_unstemmed | Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation |
| title_short | Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation |
| title_sort | genetic and phenotypic characterization of community hospital patients with qt prolongation |
| topic | genetic testing inherited arrhythmia long‐QT syndrome |
| url | https://www.ahajournals.org/doi/10.1161/JAHA.118.009706 |
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