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Table 3 Main clinical characteristics of mutation negative and mutation positive patients

From: Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

 

Mutation negative a (N = 224)

Mutation positive (N = 34)

p-value

Age (years)

41.8 (17.0)

31.9 (19.5)

0.004

Female gender

63/224

17/34

0.01

TAD

199/224

29/34

0.55

DAD

52/224

5/34

0.27

Family history for TAD

52/179

15/28

0.01

Systemic score

   

 1-2

47/164

3/33

0.018

 3-6

45/164

9/33

0.98

 ≥7

13/164

10/33

<0.001

Mitral valve prolapse

23/216

7/34

0.097

Bifid uvula

2/139

2/15

0.048

Hypertelorism

5/224

3/34

0.039

Arterial tortuosity

12/77

0/7

0.26

Skin a/o facial features vEDS

15/142

2/19

0.99

  1. aPatients in whom a VUS was identified are not included in Table 3.
  2. DAD: distal aneurysms a/o dissections; TAD: thoracic aortic disease; vEDS: vascular Ehlers-Danlos syndrome. Age is presented as mean with standard deviation in parentheses, the number of patients positive for the respective feature and the number of patients of whom clinical data was provided, is given.