Table 1. .
Patient Cohort Details
| Phenotype(s) |
|||||
| ASD Onlya | ASD and Other CHDb | VSD Only | VSD and Other CHDc | Other CHDd | |
| No. of Subjects: | |||||
| Total | 151 | 24 | 41 | 22 | 115 |
| Male | 53 | 16 | 23 | 10 | 70 |
| With positive family historye | 20 | 5 | 4 | 2 | 8 |
| With AV conduction blockf | 5 | 3 | 0 | 1 | 0 |
| With atrial fibrillation | 8 | 0 | 0 | 0 | 0 |
| With LV dysfunction | 5g | 1h | 0 | 0 | 0 |
| Mean (range) age at enrollment, in years | 26 (0–79) | 12 (.2–62) | 6 (0–68) | 6 (0–59) | 4 (0–16) |
Three adults had mitral valve prolapse.
Including sinus venosus ASD (n=13; all others are secundum ASD); partial anomalous pulmonary venous connection (n=6); left SVC (n=2); valvular lesions (n=5), including one example of supravalvar mitral ring; and coarctation of the aorta (n=1).
Including ASD (n=7), left SVC (n=5), aortic valve abnormalities (n=5), coarctation of the aorta (n=4), double-chambered right ventricle (n=2), pulmonary stenosis (n=1), patent ductus arteriosus (n=1), and partial anomalous venous connection (n=1). One subject had mitral valve prolapse, and one had supravalvar mitral ring.
Including outflow tract lesions (n=75), atrioventricular septal defect and variants (n=18), functional single ventricle (n=17, including 2 with mitral valve atresia), heterotaxy (n=2), cor triatriatum (n=1), and Ebstein anomaly (n=1).
Positive family history was defined as at least one first-degree relative affected with CHD. Thirty-seven subjects were found to have syndromes known to be associated with CHD, including trisomy 21 (n=20) and 22q microdeletions (n=12). However, only two subjects with a positive family history were from this group.
First-degree or complete heart block. Complete and partial right bundle-branch block were not included in this group. Two subjects with ASD had left bundle-branch block.
All subjects were aged >55 years. Subjects had normal LV size and contractility but impaired diastolic relaxation (n=2) or impaired systolic function with (n=2) or without (n=1) LV dilation.
This patient (family 2, individual III:4) was positive for TBX20 mutation Q195X.