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

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

TYPE OF ANOMALY   EUROCAT STUDY Newbury-Ecob et al., 1996 [[16]] Hurst et al., 1991 [[19]] Smith et al., 1979 [[18]]
N = 61 (%) N = 55 (%) N = 43 (%) N = 39 (%)
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)
  1. *Congenital heart anomalies are presented per type of anomaly and not per patient.
  2. NOS = non specified.