Holt-Oram Syndrome

Association of extracardiac anomalies in congenital heart disease is not infrequent. The first case of congenital heart disease with syndactyly and other anomalies was reported as early as 1664 by the Danish physician, Nicolas Stenon (5). Holt and Oram (3) in 1960 first described the familial transmission of congenital cardiac disease and upper limb deformities, a syndrome which now bears their name. They also postulated a non-sex-linked dominant inheritance for this condition. Their initial report was of the association of atrial septal defect and deformities of the hands in four members of a family. In 1961 McKusick (6) reported two similar cases in a mother and daughter. Zetterqvist (8) noted two more cases in a family, mother and daughter, in 1963. Pruzanski (7) in 1964 reported upper limb deformities and congenital heart disease in 11 members of 4 generations of a Jewish family. Seven more cases of this syndrome in two families were reported by Holmes (2) in 1965. The purpose of this paper is to repo...