Table 3 Major congenital anomalies in Holt Oram syndrome: EUROCAT data and in previously published studies

Congenital heart anomalies*

Atrial septal defect

28 (45.9)

20 (36.4)

20 (46.5)

14 (35.9)

Ventricular septal defect

23 (37.7)

15 (27.2)

3 (7.0)

9 (23.1)

Atrioventricular septal defect

3 (4.9)

1 (2.6)

Pulmonary atresia/stenosis

2 (3.3)

1 (1.8)

1 (2.6)

Double outlet right ventricle

1 (1.6)

1 (2.6)

Aortic valve insufficiency

1 (1.6)

1 (2.6)

Aortic valve stenosis

2 (3.6)

TrIcuspid atresia

2 (3.3)

Mitral valve abnormality

3 (5.5)

1 (2.3)

2 (5.1)

Patent ductus arteriosus

3 (4.9)

1 (1.8)

1 (2.3)

1 (2.6)

Pentalogy of Fallot

1 (1.6)

Tetralogy of Fallot

1 (1.6)

2 (3.6)

Common arterial truncus

1 (1.6)

Dextrocardia

1 (1.6)

1 (1.8)

1 (2.3)

1 (2.6)

Right aortic arch

1 (2.6)

Congenital heart disease, NOS

1 (1.6)

4 (10.3)

LIMBS

Thumbs

Triphalangeal/digital thumb

24 (39.3)

10 (18.2)

10 (23.3)

24 (61.5)

Hypoplasia of thumb

16 (26.2)

21 (38.2)

9 (20.9)

13 (33.3)

Absence of thumb

30 (49.1)

27 (49.1)

10 (23.3)

16 (41.0)

Accessory/bifid thumb

4 (6.6)

1 (2.6)

Syndactyly of thumb

3 (4.9)

7 (12.7)

6 (15.4)

Fingers

Aplasia of hand and/or fingers

8 (13.1)

6 (10.9)

8 (20.5)

Hypoplasia of hand and/or fingers

8 (13.1)

7 (12.7)

8 (20.5)

Syndactyly

20 (32.8)

6 (10.9)

16 (41.0)

Lower arm

Agenesis radius

14 (23.0)

13 (23.6)

8 (20.5)

Hypoplastic radii, short forearms

16 (26.2)

24 (43.6)

9 (20.9)

12 (30.8)

Ulnar hypoplasia

11 (18.0)

20 (36.4)

7 (17.9)

Ulnar aplasia

4 (6.6)

4 (7.3)

1 (2.6)

Synostosis of radius and ulna

12 (19.7)

32 (58.1)

5 (12.8)

Upper arm

Humerus hypoplasia

24 (39.3)

28 (50.9)

10 (25.6)

Humerus aplasia/Phocomelia

2 (3.3)

1 (1.8)

3 (7.0)

1 (2.6)

Clavicles, abnormalities

8 (13.1)

40 (72.2)

11 (28.2)

THORAX

Rib anomalies

2 (3.3)

5 (12.8)

SPINE

Hemivertebra

1 (1.6)

1 (2.6)

Fusion of vertebrae

1 (2.6)