Molecular genetics & genomic medicine · 2022
Same family, same mutation, different ECG.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Akbuğa Kürşat, Karanfil Mustafa
Аннотация
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.
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.