Table 1 Summary of the CHD family
CHD Family members | CHD | Age at diagnosis | Heart defects according to transthoracic echocardiogram | TAB2 | |
|---|---|---|---|---|---|
DNA | Protein | ||||
II:1 | Yes | 39y | atrial septal aneurysm, left coronary artery dilation, mild aortic regurgitation | c.C446G | p.S149X |
II:3 | No | 36y | – | – | – |
II:5 | Yes | 31y | mild mitral and tricuspid regurgitation, mild aortic valve stenosis with aortic regurgitation | c.C446G | p.S149X |
II:6 | No | 32y | – | – | – |
II:7 | Yes | 30y | atrial septal aneurysm, mild mitral valves prolapse with mitral regurgitation, mild pulmonic regurgitation | c.C446G | p.S149X |
II:8 | No | 31y | – | – | – |
II:9 | Yes | 29y | atrial septal aneurysm, left atrial and ventricular dilatation | c.C446G | p.S149X |
III:3 | No | 12y | – | – | – |
III:4 | No | 11y | – | – | – |
III:5 | No | 3y | – | – | – |
III:9 | No | 2y | – | – | – |
III:10 | High risk | 19w pregnancy | – | c.C446G | p.S149X |
III:11 | Yes | 3y | mild left ventricular and right atrial dilation, mild mitral valves prolapse with mitral regurgitation | c.C446G | p.S149X |
III:13 | No | 1y | – | – | – |