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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