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Table 2 Clinical characteristics of the study group, n  = 132

From: Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

Age at the genetic inquest (years)

44.9 ± 14.2

 

Male sex (n, %)

92

69.7%

AAD first event (n, %)

39

29.5%

Age at AAD (years)

43.4 ± 11.2

 

AAD type: Stanford A/B

36/3

 

Planned TAA first procedure (n, %)

43

32.6%

Age at planned TAA first procedure (years)

39.4 ± 14.2

 

TAA with no criteria for surgery

50

37.9%

 Age (years)

45.5 ± 16.0

 

 Dilation of the aortic root, z score  ≥ 2

43

32.6%

 Aortic root dimension (mm, z score)

44.6 ± 4.5

3.9 ± 1.3

 Dilation of the ascending aorta normalized to BSA  > 2

27

20.5%

 Ascending aorta dimension (mm, normalized to BSA)

46.3 ± 3.7

2.4 ± 0.2

 Dilation of both aortic root and ascending aorta

20

15.2%

 Age at last clinical clinical examination (years)

47.3 ± 13.8

 

Syndromic or familial disease

 MFS

24

18.2%

 MFS-like

15

11.4%

 Familial TAAD (n, %)

45

34.1%

 AAD in first-degree relative

19

14.4%

 Unexplained sudden death in first-degree relative

10

7.6%

Associated structural and functional cardiac abnormalities

 BAV

28

21.2%

 Aortic regurgitation

35

26.5%

 Aortic stenosis

8

6.1%

 CoA and PDA

1

0.8%

 MVP with MR (mild/moderate/severe)

9 (2/5/2)

6.8%

 Left ventricular noncompaction

1

0.8%

 Hypertrophic cardiomyopathy

2

1.5%

Other cardiovascular diseases

 Hypertension

73

55.3%

 Coronary artery disease

20

15.2%

 Stroke

8

6.1%

 Peripheral artery aneurysms

6

4.5%

 Co-existent abdominal aortic aneurysm

2

1.5%

Other diseases

 Obesity

20

15.2%

 Diabetes mellitus

10

7.6%

 Dyslipidemia

37

28.0%

 Rheumatoid arthritis

2

1.5%