Please use this identifier to cite or link to this item: 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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