The syndrome of familial defects of heart and upper extremities (Holt-Oram syndrome).

THE ASSOCIATION of atrial septal defect and anomalies of the upper extremities specifically involving one or both thumbs was first reported by Holt and Oram in 1960.1 In that same year, McKusick2 referred to this association in one family and used the term "atriodigital dysplasia" as well as the "HoltOram syndrome." Since that time one family has been reported by Zetterqvist,3 one family by Kuhn et al.,4 one family by Lewis et al.,5 and, most recently, two families by Holmes6 (table 1). The present report adds two families with typical findings and two sporadic cases probably representing the formes frustes of the syndrome. Actually, identical cases were reported in 1949 by Birch-Jensen in his comprehensive monograph on congenital deformities of the upper extremities7 under the heading of "Radial Defects" whose similarity to the skeletal anomalies under discussion are pointed out below. The present report is considered of interest because (1) many more family studies are needed before the full spectra of cardiac and skeletal anomalies are delineated; (2) the pattern of bony anomalies will be shown to be specific and to correspond to the so-called radial defect of the orthopedists; (3) a possible chromosome abnormality will be demonstrated. It is hoped that more physicians and particularly orthopedists who care for most of these patients will become acquainted with the syndrome and be stimulated to investigate the afflicted families through a combined cardiologic-orthopedic approach.