Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome.

[holt-oram syndrome]

The Holt-Oram syndrome is a rare congenital disorder involving the skeletal and cardiovascular systems . It is characterized by upper limb deformities and cardiac malformations , atrial septal defects in particular .Four consecutive patients 1 -15 years old with the Holt-Oram syndrome presented over a 10 year span for surgical treatment of their cardiac maladies . The spectrum of the heart defects and skeletal deformities encountered in these patients are described and discussed .The Holt-Oram syndrome is an autosomal dominant condition ; however absence of the morphological features of the trait in close family members is not rare . Although patients are known to predominately present with atrial septal defects , other cardiovascular anomalies , including rhythm abnormalities , are not uncommon . Skeletal disorders vary as well .Cardiovascular disorders , skeletal malformations and familial expression of the Holt-Oram syndrome , vary widely .