Short QT syndrome classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Five variants of short QT syndrome have been characterized based upon the underlying genetic mutation, the electrocardiographic phenotype, and the clinical manifestations of the variant.
Classification
| Type | OMIM | Gene Location | Mutation | Protein | Notes | |
|---|---|---|---|---|---|---|
| 1 | SQTS 1 | 609620 | 7q 36.1 | Mutation in the KCNH2 gene causing gain of function of α-subunit Ikr | Kv11.1 | |
| 2 | SQTS 2 | 609621 | 11p15.5-p15.4 | Mutation in KCNQ1 causing gain of function of α-subunit Iks | Kv7.1 | |
| 3 | SQTS 3 | 609622 | 17q24.3 | Mutation in KCNJ2 gene causing gain of function of α-subunit IK1 | Kir2.1 | |
| 4 | SQTS 4 | 12p13.3 | Mutation in CACNB2b causing loss of function of α-subunit IL,Ca | Cav1.2 | ||
| 5 | SQTS 5 | 10p12 | Mutation in CACNA1c causing loss of function of β2-subunit IL,Ca | Cavβ2 |