Table 1 Demographic and clinical features of p.Asp76Asn carriers

From: Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome

 

All carriers (n = 34)

Clinic (n = 12)

BioVU (n = 22)

P-value

Demographics

Age at first ECG (year)

44.2 ± 19.7

42.5 ± 20.1

45.7 ± 19.9

0.69

Female, n (%)

21 (62%)

11 (91.7%)

10 (45.5%)

0.011

Phenotype

QTc on first ECG (msec)

447 ± 32.9†

463 ± 36.1

432 ± 21.7†

0.019

Max QTc (msec)

463 ± 36.7†

475 ± 33.6

453 ± 37.4†

0.13

QTc >480 msec, n (%)

10 (40%)†

6 (50%)

4 (31%)†

0.43

Syncope, n (%)

15 (44%)

9 (75%)

6 (27.2%)

0.012

Torsade or CA, n (%)

4 (12%)

3 (25%)

1 (4.55%)

0.12

1° relative with SCD or Torsade arrest

5 (15%)

5 (41.7%)

0 (0%)

0.0028

Treatment

Beta blockade, n (%)

12 (35.3%)

9 (75%)

3 (13.6%)

1.7 × 10−4

ICD, n (%)

6 (17.6%)

6 (50%)

0 (0%)

6.9 × 10−4

  1. Data are presented as mean ± standard deviation or n (%). P-values compare clinic carriers to BioVU carriers, using the two-sided Fisher’s exact test for categorical variables and the two-sided Mann Whitney U test for continuous variables. For age at first ECG, if no ECG was available, the current age was used. CA Cardiac arrest, SCD Sudden cardiac death, ICD Implantable cardioverter-defibrillator. †Excluding the 9 BioVU carriers without an ECG.
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