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Same family, same mutation, different ECG

BACKGROUND: Different types of long QT syndromes (LQTS) have distinct ECG manifestations according to the type and magnitude of ion channel dysfunction. While LQT1 carriers usually have broad‐based T waves and LQT3 carriers have extended ST segments with relatively narrow peaked T waves; LQT2 carrie...

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Detalles Bibliográficos
Autores principales: Akbuğa, Kürşat, Karanfil, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834179/
https://www.ncbi.nlm.nih.gov/pubmed/36305573
http://dx.doi.org/10.1002/mgg3.2079
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author Akbuğa, Kürşat
Karanfil, Mustafa
author_facet Akbuğa, Kürşat
Karanfil, Mustafa
author_sort Akbuğa, Kürşat
collection PubMed
description BACKGROUND: Different types of long QT syndromes (LQTS) have distinct ECG manifestations according to the type and magnitude of ion channel dysfunction. While LQT1 carriers usually have broad‐based T waves and LQT3 carriers have extended ST segments with relatively narrow peaked T waves; LQT2 carriers have low‐amplitude T waves with high incidences of notches. METHODS: We describe three members of a family with the same LQTS2 pathogenic variant, but different surface ECG findings. CONCLUSION: This case shows ECG differences may also occur between family members who have pathogenic variants associated with long QT syndrome.
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spelling pubmed-98341792023-01-13 Same family, same mutation, different ECG Akbuğa, Kürşat Karanfil, Mustafa Mol Genet Genomic Med Clinical Reports BACKGROUND: Different types of long QT syndromes (LQTS) have distinct ECG manifestations according to the type and magnitude of ion channel dysfunction. While LQT1 carriers usually have broad‐based T waves and LQT3 carriers have extended ST segments with relatively narrow peaked T waves; LQT2 carriers have low‐amplitude T waves with high incidences of notches. METHODS: We describe three members of a family with the same LQTS2 pathogenic variant, but different surface ECG findings. CONCLUSION: This case shows ECG differences may also occur between family members who have pathogenic variants associated with long QT syndrome. John Wiley and Sons Inc. 2022-10-28 /pmc/articles/PMC9834179/ /pubmed/36305573 http://dx.doi.org/10.1002/mgg3.2079 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Reports
Akbuğa, Kürşat
Karanfil, Mustafa
Same family, same mutation, different ECG
title Same family, same mutation, different ECG
title_full Same family, same mutation, different ECG
title_fullStr Same family, same mutation, different ECG
title_full_unstemmed Same family, same mutation, different ECG
title_short Same family, same mutation, different ECG
title_sort same family, same mutation, different ecg
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834179/
https://www.ncbi.nlm.nih.gov/pubmed/36305573
http://dx.doi.org/10.1002/mgg3.2079
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