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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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. |
format | Online Article Text |
id | pubmed-9834179 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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
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title_full | Same family, same mutation, different ECG
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title_fullStr | Same family, same mutation, different ECG
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title_full_unstemmed | Same family, same mutation, different ECG
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title_short | Same family, same mutation, different ECG
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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 |
work_keys_str_mv | AT akbugakursat samefamilysamemutationdifferentecg AT karanfilmustafa samefamilysamemutationdifferentecg |