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Table 1 Clinical and demographic characteristics of study population

From: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

Proband

Sex

Age

Diagnosis

Phenotype

Other cardiac malformation

A

M

40

AS and AAD

AP

/

B

M

25

AR and AAD

R-L

/

C

F

40

AR

unk

/

D

F

21

AR

R-L

CoA

E

M

37

BAV

R-L

/

F

M

74

AS and AAD

unk

/

G

M

17

AI and AAD

R-L

/

H

M

67

AR and AAD

R-L

/

I

M

38

AS

R-L

CoA

J

F

65

AS and AAD

AP

/

K

M

37

AR and AAD

R-L

/

  1. AS: aortic stenosis; AAD: Ascending Aortic Dilation; AR: Aortic regurgitation; AI: aortic insufficiency; CoA: Aortic Coarctation; AP: anterior-posterior no raphe; R-L: right/left coronary commissure; unk: unknown.