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letter
. 2022 May 31;38(4):491–553. doi: 10.1002/joa3.12717
Disease Diagnostic Prognostic Therapeutic
SQTS + + +
Recommendation Consensus statement instruction Ref.
In any patient satisfying the diagnostic criteria for SQTS (such as Class 1 clinical diagnosisa or SQTS diagnostic score >4b), molecular genetic testing is recommended for the definitive disease associated genes (currently KCNH2, KCNQ1). graphic file with name JOA3-38-491-g003.jpg 17
Testing of KCNJ2 and SLC4A3 may be performed in all index patients in whom a cardiologist has established with a high probability a diagnosis of SQTS, based on examination of the patient’s clinical history, family history, and ECG characteristics obtained at baseline or during ECG Holter recording and exercise stress test (SQTS diagnostic score ≥4). graphic file with name JOA3-38-491-g008.jpg 17 , 217 , 218
Variant‐specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease‐causative variant. graphic file with name JOA3-38-491-g003.jpg Expert opinion
Predictive genetic testing in related children may be considered in specific settings. graphic file with name JOA3-38-491-g008.jpg Expert opinion