Pasquale Crea, Carla Giustetto, Antonino Micari, Letteria Bruno, Francesco De Luca, Lilia Oreto
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A Novel Variant in SLC4A3 Gene Mutation Associated With Familial Short QT Syndrome and Sudden Death.
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.
期刊介绍：
Journal of Cardiovascular Electrophysiology (JCE) keeps its readership well informed of the latest developments in the study and management of arrhythmic disorders. Edited by Bradley P. Knight, M.D., and a distinguished international editorial board, JCE is the leading journal devoted to the study of the electrophysiology of the heart.
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