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Table 1 Clinical and molecular characteristics of the 10 studied patients

From: Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

Patients ID

Age at diagnosis/referred to our center (years)

Sex

Diagnostic criteria

BAV morphology

MAS: diameter (mm)/site

BAV hemodynamics

MVP

Eye EL

Systemic features

Systemic features score

Family history

FBN1 mutations

P1

15/24

M

RL

50/AoR

AR moderate

-

-

-

0

TAA

Arg529Gln

P2

19/25

M

RL

57/AoR

AR moderate

+

-

MVP, My

2

-

Arg636Gly

Arg2726Trp

P3

35/40

M

RL

45/AoR

-

-

-

My, PE, Sc, Th+

4

-

-

P4

27/40

F

RL

41/AoR

AR mild

+

-

MVP, PP, CS

3

TAA/AAA

-

P5

17/24

M

RL

47/AscA

-

-

-

Sc, PP, CS

3

-

-

P6

40/40

M

RL

44/AoR

-

-

-

PE, CS, facies

3

-

-

P7

42/42

M

RL

Prothesic tube

-

-

-

CS

1

-

na

P8

31/31

M

RL

42/AscA

-

+

-

MVP, PE, PC, PP, CS

6

BAV

na

P9

24/24

M

RL

40/AoR

-

-

-

PE, Ky, CS, My

4

TAA

-

P10

31/31

F

RL

48/AoR

AR mild

+

-

MVP, CS, DE, PP, Sc

5

-

-

  1. ID = identification number; BAV = bicuspid aortic valve; MAS = maximal aortic size; M = male; F = female; MVP = mitral valve prolapse; RL = fusion of right and left coronary leaflets; EL = ectopia lentis; AoR = aortic root; AR = aortic regurgitation; AscA = Ascending aorta; Systemic features are reported and quoted according to new Ghent criteria (Loeys’ et al. 2010); CS = cutaneous Striae; EL = ectopia lentis; HD = hindfoot deformities; My = myopia; PE = pectus excavatum, ; PP = pes planus; Sc = scoliosis;Ky = kyphosis; Th + =positive thumb sign; + = present; - = absent; na = not analyzed.