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Clinical and genetic features of Australian families with long QT syndrome: A registry-based study

BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This st...

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Autores principales: Burns, Charlotte, Ingles, Jodie, Davis, Andrew M., Connell, Vanessa, Gray, Belinda, Hunt, Lauren, McGaughran, Julie, Semsarian, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129121/
https://www.ncbi.nlm.nih.gov/pubmed/27920829
http://dx.doi.org/10.1016/j.joa.2016.02.001
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author Burns, Charlotte
Ingles, Jodie
Davis, Andrew M.
Connell, Vanessa
Gray, Belinda
Hunt, Lauren
McGaughran, Julie
Semsarian, Christopher
author_facet Burns, Charlotte
Ingles, Jodie
Davis, Andrew M.
Connell, Vanessa
Gray, Belinda
Hunt, Lauren
McGaughran, Julie
Semsarian, Christopher
author_sort Burns, Charlotte
collection PubMed
description BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS. We recruited individuals from the Australian Genetic Heart Disease Registry and Genetic Heart Disease Clinic, in Sydney, Australia, and included those with a diagnosis of LQTS according to the most recent consensus statement. RESULTS: Among 108 families with LQTS, 173 individuals were affected. Twenty-five (32%) probands had a sudden cardiac death (SCD) event (including appropriate implantable cardioverter defibrillator [ICD] therapy, or resuscitated cardiac arrest). There were 64 (82%) probands who underwent genetic testing, and 34 (53%) had a pathogenic or likely pathogenic mutation in. Having a family history of LQTS was significantly associated with identification of a pathogenic result (79% versus 14%, p<0.0001). There were 16 (9%) participants who experienced delay to diagnosis of at least 12 months. CONCLUSIONS: This is the first clinical and genetic study in a large cohort of Australian families with LQTS. Findings from this study suggest that the clinical and genetic features in this population are not dissimilar to those described in North American, European, and Asian cohorts. Global-scale information about families with LQTS is an important initiative to ensure diagnostic and management approaches are applicable to different populations and ethnicities.
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spelling pubmed-51291212016-12-05 Clinical and genetic features of Australian families with long QT syndrome: A registry-based study Burns, Charlotte Ingles, Jodie Davis, Andrew M. Connell, Vanessa Gray, Belinda Hunt, Lauren McGaughran, Julie Semsarian, Christopher J Arrhythm Original Article BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS. We recruited individuals from the Australian Genetic Heart Disease Registry and Genetic Heart Disease Clinic, in Sydney, Australia, and included those with a diagnosis of LQTS according to the most recent consensus statement. RESULTS: Among 108 families with LQTS, 173 individuals were affected. Twenty-five (32%) probands had a sudden cardiac death (SCD) event (including appropriate implantable cardioverter defibrillator [ICD] therapy, or resuscitated cardiac arrest). There were 64 (82%) probands who underwent genetic testing, and 34 (53%) had a pathogenic or likely pathogenic mutation in. Having a family history of LQTS was significantly associated with identification of a pathogenic result (79% versus 14%, p<0.0001). There were 16 (9%) participants who experienced delay to diagnosis of at least 12 months. CONCLUSIONS: This is the first clinical and genetic study in a large cohort of Australian families with LQTS. Findings from this study suggest that the clinical and genetic features in this population are not dissimilar to those described in North American, European, and Asian cohorts. Global-scale information about families with LQTS is an important initiative to ensure diagnostic and management approaches are applicable to different populations and ethnicities. Elsevier 2016-12 2016-03-15 /pmc/articles/PMC5129121/ /pubmed/27920829 http://dx.doi.org/10.1016/j.joa.2016.02.001 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Original Article
Burns, Charlotte
Ingles, Jodie
Davis, Andrew M.
Connell, Vanessa
Gray, Belinda
Hunt, Lauren
McGaughran, Julie
Semsarian, Christopher
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
title Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
title_full Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
title_fullStr Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
title_full_unstemmed Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
title_short Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
title_sort clinical and genetic features of australian families with long qt syndrome: a registry-based study
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129121/
https://www.ncbi.nlm.nih.gov/pubmed/27920829
http://dx.doi.org/10.1016/j.joa.2016.02.001
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