Table 1.
Frequency of cardiac phenotypes in the 78 probands and their affected relatives in our series, compared to the literature [4–11]
| Patients from our study | Literature [4–11] | ||
|---|---|---|---|
| Probands (N = 78) | Probands and relatives (N = 94) | ||
| Congenital heart disease (CHD) | |||
| General | |||
| Single septal defect | 38/78 (48.7) | 44/94 (46.8) | nd |
| Multiple septal defect | 12/78 (15.4) | 16/94 (17) | nd |
| Septal defect, associated with another CHD | 15/78 (19.2) | 17/94 (18) | nd |
| Isolated valvular defect | 2/78 (2.6) | 2/94 (2.1) | nd |
| Details | |||
| Septal defects | |||
| Atrial septal defect | 48/78 (61.5) | 58/94 (61.7) | 44.4% |
| Ventricular septal defect | 27/78 (34.6) | 32/94 (34) | 29.4% |
| Atrioventricular septal defect | 4/78 (5.1) | 4/94 (4.3) | 3.3% |
| Other | |||
| Mitral valve abnormalities | 3/78 (3.8) | 3/94 (3.2) | 4.1% |
| Patent ductus arteriosus | 3/78 (3.8) | 3/94 (3.2) | 3.6% |
| Pulmonary stenosis | 2/78 (2.6) | 3/94 (3.2) | 1.8% |
| Dextrocardia | 2/78 (2.6) | 2/94 (2.1) | 1.8% |
| Left ventricle hypoplasia | 2/78 (2.6) | 2/94 (2.1) | nd |
| Aortic coarctation | 4/78 (5.1) | 4/94 (4.3) | nd |
| Left superior vena cava | 3/78 (3.8) | 3/94 (3.2) | nd |
| Complex CHD | 1/78 (1.3) | 1/94 (1) | nd |
| Conduction disturbances | |||
| General | |||
| Isolated | 3/71 (4.2) | 5/87 (5.7) | nd |
| Associated with CHD | 18/71 (25.3) | 20/87 (23) | nd |
| Details | |||
| Sinus bradycardia | 6/71 (8.5) | 7/87 (8) | nd |
| Atrial flutter | 2/71 (2.8) | 2/87 (2.3) | nd |
| Atrioventricular block | 2/71 (2.8) | 4/87 (4.6) | nd |
| Right bundle branch block | 5/71 (7) | 6/87 (6.9) | nd |
| Junctional tachycardia | 5/71 (7) | 5/87 (5.7) | nd |
| Long QT | 1/71 (1.4) | 1/87 (1.1) | nd |
Numbers in brackets are expressed in percent
nd not determined