Table 5 Clinical characteristics of probands with pathogenic/likely pathogenic mutation and related mutation carriers.

From: Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing

Family

Position on pedigree-status

Sex

Age

Type Of syndr-ome

CVS involve-ment of the aorta

Aortic root

AR

LV-EF

Extensi-on

Other CVS involve-ment

Type of surgery

Age at surg-ery

Gene

Mutation

TAAD 003

II:1-prob-And

M

28

MFS

AD

56

3

60

R, As, Ar, D, Ab

NO

B + TAR + DASI

28

FBN1

c.1098G > T

TAAD 013

II:1-prob-and

M

35

MFS

AD

65

3

45

R, As, Ar, D, Ab

MR(1), TR(1)

B + TAR + DASI

35

FBN1

c.7471 delA

TAAD 014

II:2-prob-and

M

42

N

TAA

68

3

44

NO

MR(1), TR(1)

B

42

FBN1

c.1496G > C

TAAD 017

II:3-prob-and

F

43

N

AD

42

2

55

As, Ar, D, Ab

MR(1), CAD

B + TAR + DASI + CABG

43

FBN1

c.7754T > C

TAAD 024

II:1-prob-and

M

33

MFS

AD

82

3

71

R, As, Ar, D, Ab

TR(1)

B + TAR + DASI

33

FBN1

c.8147_8148insA

TAAD 027

II:2-prob-and

M

48

N

AD

67

3

42

R, As,

MR(1), TR(1)

B

48

ACTA2

c.635G > A

TAAD 030

II:2-prob-and

M

41

N

AD

49

2

75

Ar, D, Ab

MR(1)

B + TAR + DASI

41

FBN1

c.5742C > A

TAAD 030

III:1-son

M

18

MFS

N

32

0

67

NO

NO

NA

NA

FBN1

c.5742C > A

TAAD 038

II:2-prob-and

M

25

MFS

AD

90

3

70

As, Ar, D, Ab

MR(1)

B + TAR + DASI

25

FBN1

c.4454G > A

TAAD 045

II:2-prob-and

F

52

MFS

TAA

54

2

67

No

MR(1), TR(1)

B

52

FBN1

EX5_54 DEL

TAAD 046

II:1-prob-and

M

66

MFS

AD

65

2

55

As, Ar, D, Ab

NO

B + TAR + DASI

66

FBN1

c.2216G > A

COL5A2

c.2846C > G

TAAD 046

IV:1-gran-dson

M

22

N

N

31

0

72

NO

NO

NA

NA

COL5A2

c.2846C > G

TAAD 050

II:1-prob-and

M

21

N

TAA

45

0

58

NO

MR(3), TR(1)

B + MVR

21

FBN1

EX4_53 DEL

TAAD 053

II:2-prob-and

M

55

N

AD

38

2

68

As, Ar, D, Ab

NO

DAV + TAR + DASI

55

FBN1

c.7567A > C

TAAD 053

II:3-broth-er

M

56

N

AD

Surge-ry

Sur-gery

65

AS

NO

B

51

FBN1

c.7567A > C

TAAD 056

II:1-prob-and

M

24

MFS

AD

72

3

61

As, Ar, D, Ab

MR(3), TI(3)

B + TAR + DASI + MVR + TVP

24

FBN1

c.247 + 1G > A

TAAD 068

II:1-prob-and

M

18

MFS

TAA

51

2

65

NO

NO

B

18

FBN1

c.4292G > A

TAAD 068

II:2-sister

F

21

MFS mutation carrier

N

33

0

60

NO

NO

NA

NA

FBN1

c.4292G > A

TAAD 069

II:1-prob-and

M

23

MFS

TAA

48

1

72

NO

MR(3), TR(1)

B + MVR + TVP

23

FBN1

c.8292_8293insT

TAAD 069

II:2-sister

F

21

MFS mutate on carrier

N

29

0

68

NO

NO

NA

NA

FBN1

c.8292_8293insT

TAAD 070

II:2-prob-and

M

45

MFS

TAA

52

3

55

NO

TR(3)

B + TVP

45

FBN1

c.6801C > A

TAAD 070

III:3-daug-hter

F

20

MFS

TAA

45

2

60

NO

NO

NA

NA

FBN1

c.6801C > A

  1. The underline families were with VUS and have positive family history and verification.
  2. Ab: abdominal aorta, AD: aortic dissection, AR: aortic regurgitation(0 none,1 mild, 2 moderate, 3 severe), Ar: aortic arch, As: thoracic ascending aorta, B: Bentall procedure, CABG: coronary artery bypass grafting, CVS: cardiovascular system, D: thoracic descending aorta, DAV: David procedure, DASI: descending aorta stent implantation, F: female, LVEF: left ventricular ejection fraction, M: male, MFS: Marfan syndrome, MR: mitral regurgitation (0 none, 1 mild, 2 moderate, 3 severe), MVR: mitral valve replacement, N: none, NA: not applicable, TAA: thoracic aortic aneurysm, TAR: total aortic arch replacement, TR: tricuspid regurgitation (0 none, 1 mild, 2 moderate, 3 severe), TVP: tricuspid valve plastic.
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