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Table 3 Clinical characteristics of patients with suspected MFS and FBN-1 variants

From: The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

 

<18 years (n = 21)

≥18 years (n = 69)

All (n = 90)

Age, years

9 ± 4.46

39.6 ± 11.45

31.44 ± 16.92

Sex (female)

7 (33.3%)

33 (47.8%)

40 (44.4%)

Height, cm

141.85 ± 29.95

178.6 ± 24.14

167.3 ± 30.99

Weight, kg

40.02 ± 25.01

84.92 ± 27.37

71.15 ± 33.71

FH aortic event/MFS

5 (23.8%)

20 (29%)

25 (27.8%)

Ectopia lentis

13 (61.9%)

22 (31.9%)

35 (38.9%)

Echocardiogram

21 (100%)

69 (100%)

90 (100%)

 Aortic annulus, mm

18.73 ± 3.55

22.26 ± 4.56

20.94 ± 4.52

 Sinuses of Valsalva, mm

30.09 ± 6.04

40.99 ± 5.93

37.51 ± 7.83

 Sinotubular junction, mm

24.58 ± 5.49

34.14 ± 4.72

29.71 ± 6.97

 Ascending aorta, mm

23.57 ± 6,46

34.03 ± 6,09

29.45 ± 8,1

 AR (any grade)

2 (9.5%)

14 (20.3%)

16 (17.8%)

 Mild AR (grade I)

2 (9.5%)

10 (14.5%)

12 (13.3%)

 Moderate AR (grade II)

0 (0%)

4 (5.8%)

4 (4.4%)

 Moderate to severe or severe AR (grades III-IV)

0 (0%)

0 (0%)

0 (0%)

 MVP (any grade of MI)

10 (47.6%)

21 (30.4%)

31 (34.4%)

 MVP – mild MI (grade I)

6 (28.6%)

16 (23.2%)

22 (24.4%)

 MVP - Moderate MI (grade II)

4 (19.1%)

2 (2.9%)

6 (6.7%)

 MVP - Moderate to severe MI (grade III)

0 (0%)

0 (0%)

0 (0%)

 MVP – severe MI (grade IV)

0 (0%)

3 (4.3%)

3 (3.3%)

 LVD (LVEF < 55%)

0 (0%)

2 (2.9%)

2 (2.2%)

Medical treatment

11 (52.4%)

58 (84.1%)

69 (76.7%)

 ACE inhibitors/ARBs

2 (9.5%)

42 (60.9%)

44 (48.9%)

 Beta blockers

12 (57.1%)

41 (59.4%)

53 (58.9%)

Surgical treatment

0 (0%)

27 (39.1%)

27 (30%)

Reason for surgical treatment

 TA

0 (0%)

17 (24.6%)

17 (18.9%)

 TAAD

0 (0%)

7 (10.1%)

7 (7.8%)

 MVP

0 (0%)

3 (4.3%)

3 (3.3%)

Type of surgical treatment

 Bono-Bentall

0 (0%)

11 (15.9%)

11 (12.2%)

 Aortic valve-sparing

0 (0%)

15 (21.7%)

15 (16.7%)

 Mitral valve replacement

0 (0%)

4 (5.8%)

4 (4.4%)

Modified Ghent criteria of MFS

19 (90.5%)

65 (94.2%)

84 (93.3%)

Follow-up, months

26 ± 19.52

33.41 ± 26.61

31.43 ± 25.02

Death

0 (0%)

0 (0%)

0 (0%)

  1. ACE inhibitors angiotensin-converting-enzyme inhibitors, ARBs Angiotensin II receptor antagonists, FH Family history, LVD Left ventricle dysfunction, LVEF Left ventricle ejection fraction, MI Mitral insufficiency, MVP Mitral valve prolapse, SD Sudden death, TA Thoracic aorta aneurysm, TAAD Type A dissection