Genetic testing in congenital heart disease: A clinical approach

Table 2 Recurrence risks for non-syndromic congenital heart disease in first-degree relatives

Type of non-syndromic CHD	Recurrence risk of same CHD in first-degree relatives (%)	Recurrence risk of discordant CHD in first-degree relatives (%)	Recurrence risk of any CHD in first-degree relatives (%)
ASVD	1.10	2.2	3.30
ASD	0.88	2.4	3.28
VSD	0.67	1.9	2.57
ASD and VSD	0.24	2.2	2.44
Conotruncal defect1	1.30	2.4	3.70
Right ventricular outflow tract obstruction2	1.70	3.0	4.70
Left sided obstructions3	0.79	2.4	3.19

The recurrence risks for non-syndromic CHD in first-degree relatives are derived from a Danish cohort study[10,56].

¹Tetralogy of fallot, truncus arteriosus, interrupted aortic arch, double outlet ventricle, transposition of the arteries;

²Pulmonary valve stenosis, infundibular or subvalvular stenosis, double chambered right ventricle;

³Bicuspid aortic valve, aortic coartaction, aortic stenosis, hypoplastic left heart, shone complex. First-degree relatives include parents, siblings and twins; CHD: Congenital heart disease; ASVD: Atrioventricular septal defect; ASD: Atrial septal defect; VSD: Ventricular septal defect.