Holt-Oram syndrome: cardiological, radiological and genetic evaluation

A case of a 63-year-old woman with Holt-Oram syndrome is presented. The patient, operated at 38 years for correction of an interatrial defect of the ostium secundum type presented with upper extremity skeletal abnormalities, in particular on the left, and a severe mitral insufficiency with ruptured chordae tendinae of the posterior leaflet. Mitral valve reconstruction was followed by an unusual severe hemolytic anemia and acute secondary renal insufficiency. Valve replacement was therefore necessary. At present, the patient, whose karyotype is normal, is in NYHA functional class I.