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https://hdl.handle.net/20.500.11851/9108
Title: | Same family, same mutation, different ECG | Authors: | Akbuga, Kursat Karanfil, Mustafa |
Keywords: | electrocardiography long QT syndrome mutation Long-Qt Syndrome Spectrum Patterns |
Publisher: | Wiley | Abstract: | 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. | URI: | https://doi.org/10.1002/mgg3.2079 https://hdl.handle.net/20.500.11851/9108 |
ISSN: | 2324-9269 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Hastanesi WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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