Holt‐Oram Syndrome

In 1960 Holt & Oram [5] described a familial syndrome featuring atrial septal defect, thumb anomalies and peculiar supraventricular arrhythmias. The presence in members of successive generations suggested dominant heredity. McKusick [8] who described the second family, proposed the term “atrio-digital dysplasia”. Zetterqvist [ll] and Kuhn et al. [6] in 1963, Pruzanski [9] and Lewis et al. [7] in 1964, Holmes (two families) [4] in 1965, Gall et al. [2] and Ehlers & Engle [l] in 1966 have published 8 further families, all showing a clear dominant transmission. Though the ostium secundum type of atrial septal defect (ASD) is the most usual heart anomaly, ventricular septal defect has also been described in some instances [2, 4 ,6 , 71. Exceptionally ostium primum ASD [4], patent ductus arteriosus [2, 61, and right ventricular hypertrophy without any septal defect [6] were present. The arrhythmia is characterized by a tendency to sinus bradycardia with nodal escapes and long P-R intervals. Ectopic rhythms may also be present. The usual hand anomalies show hypo-