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Table 1 Characteristics of the mutation carriers at the age of 18–40 yearsa

From: Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients

 

All patients

LQT1

LQT2

Non-FF

FF

Non-FF

FF

LQT1

LQT2

D317N

Other

G589D

c.1129-2A > G

c.453delC

Other

L552S

R176W

N (%)

617 (72)

243 (28)

20 (3)

72 (12)

453 (73)

72 (12)

23 (10)

61 (25)

73 (30)

86 (35)

Female

396 (64)

157 (65)

17 (85)

48 (67)

282 (62)

49 (68)

11 (48)a, bc

33 (54)a

56 (77)b

57 (66)a, b

Age, y

36.3 ± 6.2

36.1 ± 6.8

36.5 ± 5.5

35.5 ± 7.2

36.3 ± 6.1

37.4 ± 5.7

35.1 ± 8.2

35.2 ± 7.1

37.0 ± 6.0

36.3 ± 6.9

QTc, ms

467 ± 40

465 ± 41

492±51ac

473 ± 43b

465 ± 40b

466 ± 28b

466 ± 39a, b, c

487 ± 45a,

466 ± 42b

448 ± 29c

Proband

112 (18)1b

78 (32)2

1 (5)

18 (25)

76 (17)

17 (24)

0a

34 (56)b

22 (30)c

22 (26)c

β-blocker

184 (30)

65 (27)

11 (55)a

30 (42)a, b

126 (28)a, b

17 (24)b

7 (30)a, b

31 (51)a

14 (19)b

13 (15)b

ICD

9 (2)1

11 (5)2

1 (5)

3 (4)

5 (1)

0

0a, b

9 (15)a

2 (3)a, b

0b

Pacemaker

5 (1)1

8 (3)2

0

0

3 (1)

2 (3)

0a, b

6 (10)a

0b

2 (2)a, b

LCSD

1 (0.2)

1 (0.4)

0

1 (1)

0

0

0

1 (2)

0

0

CE

69 (11)1

43 (18)2

8 (40)a

10 (14)a, b

44 (10)b

7 (10)b

1 (4)a

25 (41)b

9 (12)a

7 (8)a

Syncoped

62 (10)1

39 (16)2

7 (35)a

8 (11)a, b

40 (9)b

7 (10)b

1 (4)a

22 (36)b

9 (12)a

7 (8)a

ACAe

4 (1)

4 (2)

0

1 (1)

3 (1)

0

0

3 (5)

1 (1)

0

SCDf

4 (1)

3 (1)

0

1 (1)

3 (1)

0

0

3 (5)

0

0

CE without BB

55 (10)a

36 (16)b

5 (25)a

7 (10)a, b

36 (8)b

7 (10)a, b

1 (4)a

20 (33)b

8 (11)a

7 (8)a

CE with BB

16 (9)

9 (14)

3 (27)

3 (10)

10 (8)

0

0

7 (22)

2 (14)

0

CE age, yg

26.1 ± 5.91

24.0 ± 5.72

29.5 ± 5.7

25.6 ± 7.0

25.6 ± 5.7

25.5 ± 5.5

18.2 ± 0

23.8 ± 5.5

25.6 ± 7.0

23.6 ± 4.9

CE before age 18

74 (12)

30 (12)

6 (30)a

17 (24)a

46 (10)b

5 (7)b

1 (4)

15 (25)

6 (8)

8 (9)

  1. Parameters shown as n (%), or mean ± SD
  2. aPatients with > 1 LQTS-causing mutation (n = 7) are excluded
  3. bSubscript numbers (1 or 2) indicate that the LQT1 and LQT2 patients have statistically significant difference (p < 0.05)
  4. cSubscript letters (a, b, c or d) indicate that at least one group differs from the other three groups as tested separately within LQT1 and LQT2 patient groups. Groups with different subscript letters (a, b, c or d) have statistically significant difference after Bonferroni correction (p < 0.05)
  5. dTriggered by swimming, sport, loud noise or startle
  6. eA resuscitation that required external defibrillation
  7. fNot explained by any other cause and abrupt in onset if witnessed
  8. gThe first cardiac event at the age of 18–40 years
  9. ACA: aborted cardiac arrest, BB: β-blocker, CE: cardiac event, FF: Finnish founder, ICD: implantable cardioverter-defibrillator, LCSD: left cardiac sympathetic denervation, SCD: sudden cardiac death, SD: standard deviation
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BMC Medical Genetics

ISSN: 1471-2350

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