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Table 4 Type of congenital heart defect in sporadic and familial patients with Holt Oram syndrome (N = 48)

From: Holt Oram syndrome: a registry-based study in Europe

Type of CHD

Sporadic

Familial

TOTAL

ASD

13 (34.2%)

5 (50.0%)

18 (37.5%)

VSD

7 (18.4%)

1 (10.0%)

8 (16.7%)

ASD + VSD

2 (5.3%)

2 (20.0%)

4 (8.3%)

Complex

12 (31.6%)

-

12 (25%)

Other

4 (10.5%)

2 (20.0%)

6 (12.5%)

TOTAL

38

10

48/61* (78.7% )

  1. *Number of HOS patients with available data on type and frequency of major congenital anomalies.
  2. CHD - congenital heart defect, ASD - atrial septal defect, VSD - ventricular septal defect.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172