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Table 3 Cox regression model: Adjusted risk of cardiac events at the age of 18–40 years in mutation carriers and non-carrier relatives before initiation of β-blocker medicationa

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

 

Hazard ratio

95% confidence interval

P-value

Non-carrierb

1 (reference)

–

–

KCNQ1 G589D

6.06

3.49–10.5

< 0.001

KCNQ1 c.1129-2A > G

6.83

3.19–14.6

< 0.001

KCNQ1, other mutationsc

8.02

3.43–18.8

< 0.001

KCNQ1 D317N

23.7

11.0–51.1

< 0.001

KCNH2 c.453delC

3.86

1.91–7.79

< 0.001

KCNH2 R176W

5.87

2.89–11.9

< 0.001

KCNH2 L552S

7.80

3.86–15.8

< 0.001

KCNH2, other mutationsc

33.3

18.4–60.3

< 0.001

  1. aPatients with > 1 LQTS-causing mutation (n = 7) are excluded
  2. bMean QTc was significantly longer in all eight mutation carrier groups mentioned in the Table 3 than in non-carrier relatives (QTc 424 ± 26 and 410 ± 22 ms in female and male non-carriers, respectively). The cumulative probability of cardiac events was 2% in non-carrier relatives
  3. cThe KCNQ1 and KCNH2 mutations in the study are listed in Additional file 2: Table S1
  4. The model was adjusted for gender, QTc duration, cardiac events before age 18, and family membership
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BMC Medical Genetics

ISSN: 1471-2350

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