# When targeted gene testing falls short: Case report of a novel SLC4A3 F347S genetic variant associated with short QT syndrome

**Authors:** Chelsea A. Boyd, Tyler J. Novy, Taylor A. Beecroft-Dawson, Connor A. Bell, Emily M. Bland, Christina Y. Miyake

PMC · DOI: 10.1016/j.hrcr.2025.10.006 · HeartRhythm Case Reports · 2025-10-13

## Full-text entities

- **Genes:** CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) [NCBI Gene 783] {aka CAB2, CACNLB2, CAVB2, MYSB}, KCNH2 (potassium voltage-gated channel subfamily H member 2) [NCBI Gene 3757] {aka ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1}, CACNA1C (calcium voltage-gated channel subunit alpha1 C) [NCBI Gene 775] {aka CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2}, KCNQ1 (potassium voltage-gated channel subfamily Q member 1) [NCBI Gene 3784] {aka ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1}, KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) [NCBI Gene 3759] {aka ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7}, SLC22A5 (solute carrier family 22 member 5) [NCBI Gene 6584] {aka CDSP, OCTN2}, CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) [NCBI Gene 781] {aka CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3}, SLC4A3 (solute carrier family 4 member 3) [NCBI Gene 6508] {aka AE3, CAE3/BAE3, SLC2C, SQT7}, SCN5A (sodium voltage-gated channel alpha subunit 5) [NCBI Gene 6331] {aka CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD}
- **Diseases:** syncope (MESH:D013575), short QTc intervals (MESH:C566237), cardiac arrest (MESH:D006323), cardiac channelopathy (MESH:D053447), VF (MESH:C537182), SQTS (MESH:C566506), cardiomyopathy (MESH:D009202), chest pain (MESH:D002637), epileptic medications (MESH:D000069279), SCD (MESH:D016757), arrhythmia (MESH:D001145), seizures (MESH:D012640), death (MESH:D003643), spina bifida (MESH:D016135), coronary anomalies (MESH:D003330), GS (MESH:D042822), sudden death (MESH:D003645), atrial fibrillation (MESH:D001281), cardiac disease (MESH:D006331), depressed (MESH:D003866), neurologic sequelae (MESH:D009422), VT/VF (MESH:D014693), pectus excavatum (MESH:D005660), prolonged QT intervals (MESH:D008133), ventricular tachycardia (MESH:D017180)
- **Chemicals:** epinephrine (MESH:D004837), chloride (MESH:D002712), implantable cardioverter (-), amiodarone (MESH:D000638)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** F347S, F347S

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## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC12925700/full.md

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Source: https://tomesphere.com/paper/PMC12925700