Rare cardiac defect in Holt-Oram syndrome.

[holt-oram syndrome]

Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs , and congenital heart disease . Approximately 40 % of cases represent new mutations . Defective development of the embryonic radial ray (e .g . aplasia , hypoplasia , fusion , other anomalous development ) results in a wide spectrum of phenotypes , including triphalangeal or absent thumbs , foreshortened arms and phocomelia . The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD ), most commonly the secundum type , heart block of varying degrees , or both . We report a rare cardiac defect patent ductus arteriosus (PDA ) and ventricular septal defect (VSD ) in a case of Holt-Oram syndrome .