Journal of cardiovascular electrophysiology · 2025
A Novel Variant in SLC4A3 Gene Mutation Associated With Familial Short QT Syndrome and Sudden Death.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Crea Pasquale, Giustetto Carla, Micari Antonino, Bruno Letteria, De Luca Francesco, Oreto Lilia
Аннотация
INTRODUCTION: Short QT syndrome (SQTS) is a rare genetic arrhythmia associated with an increased risk of sudden cardiac death.
BACKGROUND: Variants in the SLC4A3 gene have recently been linked to SQTS, though clinical evidence is limited.
METHODS: We evaluated a 13-year-old girl with a short QT interval and her family through ECG and genetic testing.
RESULTS: A novel heterozygous SLC4A3 mutation (c.1157G>T; p.Gly386Val) was identified in the proband and her mother, both with short QT intervals. The family history included multiple cases of sudden unexplained death and epilepsy. Antiarrhythmic drugs failed to prolong QT. The mutation was absent in other asymptomatic relatives.
CONCLUSION: This report describes a previously unreported SLC4A3 variant associated with familial SQTS and sudden death, reinforcing the gene's pathogenic role.
BACKGROUND: Variants in the SLC4A3 gene have recently been linked to SQTS, though clinical evidence is limited.
METHODS: We evaluated a 13-year-old girl with a short QT interval and her family through ECG and genetic testing.
RESULTS: A novel heterozygous SLC4A3 mutation (c.1157G>T; p.Gly386Val) was identified in the proband and her mother, both with short QT intervals. The family history included multiple cases of sudden unexplained death and epilepsy. Antiarrhythmic drugs failed to prolong QT. The mutation was absent in other asymptomatic relatives.
CONCLUSION: This report describes a previously unreported SLC4A3 variant associated with familial SQTS and sudden death, reinforcing the gene's pathogenic role.