Clinical Study

Recurrence of Congenital Heart Disease in Cases with Familial Risk Screened Prenatally by Echocardiography

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 diagnosisTotal index cases n.Affected cases n.Recurrence diagnosisRecurrence rate Tot %Recurrence rate in siblings %Recurrence in offspring %
M, F
Recurrence rate in Relatives %

Anomalies of a-v connections
(i) UVH6511 HLV1/65 = 1.51/52 = 1.9M 0/1, F 0/10/11
(ii) HLV8111 HLV1/81 = 1.231/80 = 1.250/1
(iii) TrAtr37
(iv) AVSD 6451 VSD; 1 AVSD+ HLV
2 AVSD incomplete;
1 cor triatriatum.dx.
5/64 = 7.8 3/46 = 6.5M 1/4 = 25.0, F 0/11/13 = 7.7
(v) Ebstein/Dyspl Tr2121 LSVC; 1 CoA2/21 = 9.52/15 = 13.3M 0/1, F 0/5

Conotruncal anomalies
(i) Tetralogy of Fallot15191 DORV; 1 ASD+PS;
2 VSD; 1 PLSVC; 1 PS;
1 TF+agen.PV,
1 Patr+IVS
8/151 = 5.32/73 = 2.7M 1/26 = 3.8, F 2/11 = 18.23/41 = 7.3
(ii) PAtr + VSD1911 VSD1/19 = 5.31/11 = 9.1M 0/10/7
(iii) PAtr + IVS1422 PS2/14 = 14.32/10 = 250/4
(iv) DORV15
(v) Truncus2011 ASD1/20 = 51/20 = 5
(vi) TGA10432 VSD; 1 PS3/104 = 2.882/66 = 3.03 M 0/21/36 = 2.8
(vii) TGAc1511 TGAc + VSD + PAtr1/15 = 6.71/10 = 10.0M 0/1, F 0/20/2

Shunts:
(i) VSD239101 TrAtr +TGA+VSD;
2 VSD; 1 TF; 2 AVSD
1 VSD + ASD + PS
2 ASD; 1 truncus
10/239 = 4.22/126 = 1.59M 5/66 = 7.5, F 1/14 = 7.12/33 = 6.1
(ii) VSD + ASD2311 TGA1/23 = 4.351/18=6.3M 0/2, F 0/10/2
(iii) ASD19482 ASD; 3 VSD;
1 VSD + ASD;
1 AVSD + HLV + HAo;
1 ASD + PAPVD + agenesis right lung
8/194 = 4.1.1/59 = 1.7M 5/88 = 5.7, F1/20 = 5–01/27 = 3.7
(iv) Ductus Arteriosus3411 ASD1/34 = 2.940/10M 1/12 = 8.3, F 0/10/11

Anomalies of semilunar valves/great arteries:
(i) CoA/Interr Ao arch13431 HLV; 1 ASD;1CoA3/134 = 2.24 1/84 = 1.2M 1/17 = 5.9, F 1/7 = 14.30/26
(ii) AS11551 VSD; 2 AS,
1 Ebstein; 1 TGA + CoA
5/115 = 4.30/28M 2/27 = 7.4, F 2/34 = 5.91/26 = 3.8
(iii) PS7641 HLV; 1 PS;
1 CoA, 1 PAPVD
4/76 = 5.32/37 = 5.4M 0/18, F 1/6 = 16.71/15 = 6.6

Various:
(i) P/TAPVD 220/22-0/12M 0/2, F 0/3 0/5
(ii) Heterotaxy syndrome2211 AVSD + left isom;1/22 = 4.51/19 = 5.30/3
(iii) Dextrocardia + svi, s.sol2321 HRV + PAtr;
1 AVSD + right isom
2/23 = 8.72/14 = 14.3M 0/5, F 0/20/2

Other (miscel.)4111 VSD1/41 = 2.40/17M 0/7, F 0/61/11 = 9.1
CHD undefined 10541 VSD; 2 CoA, 1 TGA4/105 = 3.83/30 = 10 F 0/11/74 = 1.35

Total1634 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.