Skip to main content
. 2022 Apr 4;24(8):1307–1367. doi: 10.1093/europace/euac030
Recommendations Consensus statement instruction Ref.
Molecular genetic testing for definitive disease associated genes (currently KCNQ1, KCNH2, SCN5A, CALM1, CALM2, and CALM3) should be offered to all index patients with a high probability diagnosis of LQTS, based on examination of the patient’s clinical history, family history, and ECG characteristics obtained at baseline, during ECG Holter recording and exercise stress test (Schwartz Score ≥ 3.5, SupplementaryTable S2).a graphic file with name euac030ilf1.jpg 20
Analysis of specific genes should be offered to patients with a specific diagnosis as follows: KCNQ1 and KCNE1 in patients with Jervell and Lange-Nielsen syndrome, CACNA1C in Timothy syndrome, KCNJ2 in Andersen–Tawil syndrome, and TRDN in patients suspected to have triadin knockout syndrome. graphic file with name euac030ilf1.jpg 20, 89–93
An analysis of CACNA1C and KCNE1 may be performed in all index patients in whom a cardiologist has established a diagnosis of LQTS with a high probability, based on examination of the patient’s clinical history, family history, and ECG characteristics obtained at baseline, during ECG Holter recording and exercise stress test (Schwartz Score ≥ 3.5).a graphic file with name euac030ilf2.jpg 20
Variant-specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease-causing variant. graphic file with name euac030ilf1.jpg Expert opinion
Predictive genetic testing in related children is recommended from birth onward (any age). graphic file with name euac030ilf1.jpg Expert opinion
a

The Schwartz score can be found in Supplementary material online, Table S2.