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

Abstract

INTRODUCTIONThe 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. PRESENTATION OF CASEFour 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. DISCUSSIONThe 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. CONCLUSIONCardiovascular disorders, skeletal malformations and familial expression of the Holt–Oram syndrome, vary widely.