Table 2.
Recurrence of congenital heart defects in subgroups of CHD in index cases: total recurrence rate and recurrence rates in siblings, offspring, and distant relatives.
| Index case diagnosis | Total index cases n. | Affected cases n. | Recurrence diagnosis | Recurrence rate Tot % | Recurrence rate in siblings % | Recurrence in offspring % M, F |
Recurrence rate in Relatives % |
|---|---|---|---|---|---|---|---|
| Anomalies of a-v connections | |||||||
| (i) UVH | 65 | 1 | 1 HLV | 1/65 = 1.5 | 1/52 = 1.9 | M 0/1, F 0/1 | 0/11 |
| (ii) HLV | 81 | 1 | 1 HLV | 1/81 = 1.23 | 1/80 = 1.25 | — | 0/1 |
| (iii) TrAtr | 37 | — | — | — | — | — | — |
| (iv) AVSD | 64 | 5 | 1 VSD; 1 AVSD+ HLV 2 AVSD incomplete; 1 cor triatriatum.dx. |
5/64 = 7.8 | 3/46 = 6.5 | M 1/4 = 25.0, F 0/1 | 1/13 = 7.7 |
| (v) Ebstein/Dyspl Tr | 21 | 2 | 1 LSVC; 1 CoA | 2/21 = 9.5 | 2/15 = 13.3 | M 0/1, F 0/5 | — |
|
| |||||||
| Conotruncal anomalies | |||||||
| (i) Tetralogy of Fallot | 151 | 9 | 1 DORV; 1 ASD+PS; 2 VSD; 1 PLSVC; 1 PS; 1 TF+agen.PV, 1 Patr+IVS |
8/151 = 5.3 | 2/73 = 2.7 | M 1/26 = 3.8, F 2/11 = 18.2 | 3/41 = 7.3 |
| (ii) PAtr + VSD | 19 | 1 | 1 VSD | 1/19 = 5.3 | 1/11 = 9.1 | M 0/1 | 0/7 |
| (iii) PAtr + IVS | 14 | 2 | 2 PS | 2/14 = 14.3 | 2/10 = 25 | — | 0/4 |
| (iv) DORV | 15 | — | — | — | — | — | — |
| (v) Truncus | 20 | 1 | 1 ASD | 1/20 = 5 | 1/20 = 5 | — | — |
| (vi) TGA | 104 | 3 | 2 VSD; 1 PS | 3/104 = 2.88 | 2/66 = 3.03 | M 0/2 | 1/36 = 2.8 |
| (vii) TGAc | 15 | 1 | 1 TGAc + VSD + PAtr | 1/15 = 6.7 | 1/10 = 10.0 | M 0/1, F 0/2 | 0/2 |
|
| |||||||
| Shunts: | |||||||
| (i) VSD | 239 | 10 | 1 TrAtr +TGA+VSD; 2 VSD; 1 TF; 2 AVSD 1 VSD + ASD + PS 2 ASD; 1 truncus |
10/239 = 4.2 | 2/126 = 1.59 | M 5/66 = 7.5, F 1/14 = 7.1 | 2/33 = 6.1 |
| (ii) VSD + ASD | 23 | 1 | 1 TGA | 1/23 = 4.35 | 1/18=6.3 | M 0/2, F 0/1 | 0/2 |
| (iii) ASD | 194 | 8 | 2 ASD; 3 VSD; 1 VSD + ASD; 1 AVSD + HLV + HAo; 1 ASD + PAPVD + agenesis right lung |
8/194 = 4.1. | 1/59 = 1.7 | M 5/88 = 5.7, F1/20 = 5–0 | 1/27 = 3.7 |
| (iv) Ductus Arteriosus | 34 | 1 | 1 ASD | 1/34 = 2.94 | 0/10 | M 1/12 = 8.3, F 0/1 | 0/11 |
|
| |||||||
| Anomalies of semilunar valves/great arteries: | |||||||
| (i) CoA/Interr Ao arch | 134 | 3 | 1 HLV; 1 ASD;1CoA | 3/134 = 2.24 | 1/84 = 1.2 | M 1/17 = 5.9, F 1/7 = 14.3 | 0/26 |
| (ii) AS | 115 | 5 | 1 VSD; 2 AS, 1 Ebstein; 1 TGA + CoA |
5/115 = 4.3 | 0/28 | M 2/27 = 7.4, F 2/34 = 5.9 | 1/26 = 3.8 |
| (iii) PS | 76 | 4 | 1 HLV; 1 PS; 1 CoA, 1 PAPVD |
4/76 = 5.3 | 2/37 = 5.4 | M 0/18, F 1/6 = 16.7 | 1/15 = 6.6 |
|
| |||||||
| Various: | |||||||
| (i) P/TAPVD | 22 | — | — | 0/22- | 0/12 | M 0/2, F 0/3 | 0/5 |
| (ii) Heterotaxy syndrome | 22 | 1 | 1 AVSD + left isom; | 1/22 = 4.5 | 1/19 = 5.3 | — | 0/3 |
| (iii) Dextrocardia + svi, s.sol | 23 | 2 | 1 HRV + PAtr; 1 AVSD + right isom |
2/23 = 8.7 | 2/14 = 14.3 | M 0/5, F 0/2 | 0/2 |
|
| |||||||
| Other (miscel.) | 41 | 1 | 1 VSD | 1/41 = 2.4 | 0/17 | M 0/7, F 0/6 | 1/11 = 9.1 |
| CHD undefined | 105 | 4 | 1 VSD; 2 CoA, 1 TGA | 4/105 = 3.8 | 3/30 = 10 | F 0/1 | 1/74 = 1.35 |
|
| |||||||
| Total | 1634 | 65 | 3.98 | ||||
n: number, CHD: congenital heart disease, c.: cases, F: father, M: mother, a-v: atrioventricular UVH: univentricular heart, AVSD: atrioventricular septal defect, HLV: hypoplastic left ventricle, HAo: hypoplastic aorta, HRV: hypoplastic right ventricle, TrAtr: tricuspid atresia, Dyspl Tr: dysplasia of the tricuspid valve, PV: pulmonary valve; PAtr: pulmonary atresia, IVS: intact ventricular septum, VSD: ventricular septal defect, DORV: double outlet right ventricle, TF: Tetralogy of Fallot, TGA: transposition of great arteries, TGAc: corrected transposition of great arteries, CoA: coarctation of aorta, Interr Ao: interrupted aortic arch, AS: aortic stenosis, PS: pulmonary stenosis, ASD: atrial septal defect ostium secundum; P/TAPVD: partial/total anomalous pulmonary venous drainage; PLSVC: persistent left superior vena cava; s.: syndrome; isom: isomerism; svi: situs viscerum inversus; s.sol: situs viscerum solitus, miscel.: miscellaneous.