Table 1

Clinical and Genetic Features of the Reported Cases of SQTS

SQTS Case # (Ref. #)FamilyPresentationGenderQT (ms)QTc (ms)QT/QTp (%)Jp-Tp (ms)GeneMutationSCDACASyncopeAFOtherFamily History
1 (1,18)117 yrsFemale225 (225–280)30071100KCNH2N558KAbsentAbsentAbsentPresentSQTS
2 (1,18)151 yrsFemale230 (230–260)28969110KCNH2N558KAbsentAbsentAbsentPresentSQTS
3 (1,18)121 yrsMale240 (240–272)2676690KCNH2N558KAbsentAbsentAbsentPresentSQTS
4 (1)237 yrsFemale2662486285Not screenedPresentAbsentNegative
5 (2,3,19)3Not reportedFemale27029571120KCNH2N558KAbsentAbsentAbsentPresentPalpitationsSQTS
6 (2,3,19)38 monthsMale2603007170KCNH2N558KAbsentAbsentPresentAbsentSQTS
7 (2,3,19)3AsymptomaticFemale24026864100KCNH2N558KAbsentAbsentAbsentAbsentSQTS
8 (2,3,19)362 yrsFemale21025059110KCNH2N558KPresentPresentSQTS
9 (2,3,19)418 yrsMale240 (240–270)2806890KCNH2N558KAbsentAbsentPresentPresentSQTS
10 (2,3,19)4AsymptomaticFemale220 (220–250)29971100KCNH2N558KAbsentAbsentVasovagalAbsentPalpitationsSQTS
11 (2,3,19)48 monthsMale240 (240–260)29070120KCNH2N558KAbsentPresentAbsentSQTS
12 (3)551 yrsMale2942887395NegativeAbsentPresentAbsentSQTS
13 (3)5AsymptomaticMaleNot reported293UnavailableUnavailableNegativeAbsentAbsentAbsentAbsentSQTS
14 (4)670 yrsMale29030273110KCNQ1V307LAbsentPresentAbsentNegative
15 (5)7AsymptomaticFemaleNot reported315UnavailableUnavailableKCNJ2D172NAbsentAbsentAbsentAbsentSQTS
16 (5)7AsymptomaticMaleNot reported320UnavailableUnavailableKCNJ2D172NAbsentAbsentAbsentAbsentPresyncopeSQTS
17 (19)8AsymptomaticMale27530373UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
18 (19)829 yrsMale29031175110NegativeAbsentAbsentPresentAbsentSQTS
19 (19)850 yrsMale28031375120NegativeAbsentAbsentPresentPresentSQTS
20 (19)8AsymptomaticMale30031075UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
21 (19,20,21)9Not reportedMale28030273UnavailableNegativeAbsentAbsentAbsentPresentSQTS
22 (19,20,21)9AsymptomaticMale30031576UnavailableNegativeAbsentAbsentAbsentAbsentPMVT on ETTSQTS
23 (19,20,21)918 yrsMale27030873110NegativeAbsentPresentAbsentSQTS
24 (19)10AsymptomaticFemale32031778UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
25 (19)1014 yrsMale24028267UnavailableNegativeAbsentAbsentPresentAbsentSQTS
26 (19)10AsymptomaticFemale30033380UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
27 (19)11AsymptomaticMale29033880UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
28 (19)1117 yrsMale21029169UnavailableNegativeAbsentPresentAbsentSQTS
29 (19)1216 yrsMale28031776UnavailableNegativeAbsentPresentAbsentSQTS
30(19)12AsymptomaticMale29432478UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
31 (19)12AsymptomaticMale32033380UnavailableNegativeAbsentAbsentAbsentAbsentSQTS
32 (19)13AsymptomaticFemale31032779UnavailableOngoing at reportAbsentAbsentAbsentAbsentSQTS
33 (19)1330 yrsMale31530274UnavailableOngoing at reportPresentAbsentSQTS
34 (19)13AsymptomaticMale31532378UnavailableOngoing at reportAbsentAbsentAbsentAbsentSQTS
35 (19)1419 yrsMale30031776UnavailableNegativeAbsentPresentAbsentSCD
36 (19)154 monthsFemale2103077380Not screenedAbsentPresentAbsentSCD
37 (19,22,23)1662 yrsMale2402947080NegativeAbsentAbsentPresentPresentSCD
38 (19,23)1727 yrsMale30031275UnavailableNot screenedPresentPresentUnknown
39 (24)1818 yrsMale28031074110NegativePresentAbsentSQTS
40 (24)18AsymptomaticMale32032880160NegativeAbsentAbsentAbsentAbsentSQTS
41 (24)18AsymptomaticMale28029872120NegativeAbsentAbsentAbsentAbsentSQTS
42 (24)18AsymptomaticMale29032678120NegativeAbsentAbsentAbsentAbsentSQTS
43 (25)1920 yrsMale308 (308–340)257 (257–302)67110Ongoing at reportAbsentAbsentAbsentPresentNegative
44 (26)2030 yrsFemale27029270110Not screenedAbsentPresentAbsentNegative
45 (27)2124 yrsMale31330875170NegativeAbsentAbsentPresentInducible at EPSSCD
46 (28)2222 yrsMale334 (334–376)349 (349–381)85140KCNH2E50DAbsentPresentAbsentNegative
47 (29)2313 yrsMale300283 (283-319)7780NegativeAbsentPresentAbsentNegative
48 (29)24Not reportedMale24825261UnavailableNot reportedAbsentPresentAbsentSQTS
49 (29)25Not reportedMale28031375UnavailableNot reportedAbsentPresentAbsentSQTS
50 (29)26Not reportedMale32032078UnavailableNot reportedAbsentAbsentPresentAbsentNegative
51 (29)27Not reportedMale30031275UnavailableNot reportedAbsentAbsentPresentInducible at EPSNegative
52 (29)28Not reportedMale24531574UnavailableNot reportedAbsentPresentInducible at EPSSQTS
53 (29)29AsymptomaticMale29531075UnavailableNot reportedAbsentAbsentAbsentAbsentSQTS
54 (29)30AsymptomaticMale28026265UnavailableNot reportedAbsentAbsentAbsentAbsentSQTS
55 (29)30AsymptomaticMale29533580UnavailableNot reportedAbsentAbsentAbsentInducible at EPSSQTS
56 (29)30AsymptomaticMale30035584UnavailableNot reportedAbsentAbsentAbsentInducible at EPSSQTS
57 (30)3121 yrsFemale2803157590Not screenedAbsentPresentAbsentNegative
58 (31)32AsymptomaticMale27629872110Not screenedAbsentAbsentAbsentAbsentSCD
59 (32)33AsymptomaticMale32232980UnavailableKCNH2R1135HAbsentAbsentAbsentAbsentNSVT on Holter monitorSQTS
60 (32)33AsymptomaticMale34537790UnavailableKCNH2R1135HAbsentAbsentAbsentAbsentSQTS
61 (32)33AsymptomaticFemale40137993UnavailableKCNH2R1135HAbsentAbsentAbsentAbsentSQTS

Negative genotype:

ACA = aborted cardiac arrest; AF = atrial fibrillation; EPS = electrophysiology study; ETT = exercise treadmill test; Jp-Tp = Jpoint-Tpeak interval; NSVT = nonsustained ventricular tachycardia; PMVT = polymorphic ventricular tachycardia; QTc = Bazett corrected QT interval; QTp = predicted QT-interval; SCD = sudden cardiac death; SQTS = short QT syndrome.

  • Genes screened: KCNH2, KCNQ1, KCNJ2, KCNE1, SCN5A, KCNE2, KCNJ3, KCNJ6, KCNJ11, KCND3, KCND2, KCNA5, KCNIP2, KCHAP, KCNIP1, ABCC8, ANKB, CHRM1, CHRM4, and CHRM5.

  • Genes screened: KCNH2, KCNQ1, and KNCJ2.

  • Details not provided.