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Table 1 Clinical features in members of family

From: The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect

Member

Gender

Age (year)

Structural diagnosis

ECG diagnosis

TTE feature

Mutation

Surgery required

RA (mm)

RV (mm)

LVEF (%)

AO (mm)

III1*

Female

14

Secundum ASD with ASA, PAVSD, PS, and PLSVC

Sinus tachycardia, frequent junctional premature beat with aberrant ventricular conduction

50

37

60

24

WT/p. M310T

+

III2

Female

8

N/A

IRBBB

22

33

69

17

WT/ WT

–

III3

Female

4

Secundum ASD, mild PS and PLSVC

Sinus arrhythmia (sinus tachycardia alternating with sinus bradycardia), cardiac rhythm migration between atrionector and junction

34

31

56

15

WT/p. M310T

+

II1

Male

48

N/A

N/A

43

40

67

25

WT/WT

–

II2

Male

44

Secundum ASD, PS and AAD

Atrial fibrillation paroxysmal ventricular tachycardia

71

37

59

37

WT/p. M310T

+

II3

Female

39

N/A

N/A

40

38

62

22

WT/WT

–

II4

Male

36

N/A

IRBBB

38

36

63

21

WT/WT

–

II5

Female

32

N/A

N/A

35

32

65

20

WT/WT

–

I1

Male

72

N/A

IRBBB

45

38

57

25

WT/WT

–

I2

Female

68

PFO

N/A

43

32

61

20

WT/WT

–

I3

Male

67

N/A

N/A

44

33

59

23

WT/WT

–

I4

Female

60

N/A

N/A

43

35

60

22

WT/WT

–

  1. ECG, electrocardiograph; TTE, transthoracic echocardiography; AAD, ascending aortic dilatation; PAVSD, partial atrioventricular septal defect; ASD, atrial septal defect; PS, pulmonary stenosis; PLSVC, persistent left superior vena cava; ASA, atrial septal aneurysm; IRBBB, incomplete right bundle brunch block; RA, right atrium; RV, right ventricle; AO, aortic; LVEF, left ventricle ejection fraction
  2. *Proband