Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch.

[holt-oram syndrome]

We present a rare case of familial Holt-Oram syndrome diagnosed sonographically at 18 weeks of gestation . The foetus had serious bilateral upper limb malformations , a ventricular septal defect and a type B interrupted aortic arch , while the mother had bilateral upper limb malformations only . The pregnancy was terminated . A pathological and radiological examination of the foetus confirmed the prenatal sonographic findings . Although genetic investigation of TBX 5 mutations was not available in our locality at the time of diagnosis , the geneticists made a clinical diagnosis of familial Holt-Oram syndrome . The clinical features of our case completely fulfilled the strict diagnostic criteria for the syndrome . The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects . To the best of our knowledge , a prenatal diagnosis of Holt-Oram syndrome in association with a type B interrupted aortic arch has not been reported in the English literature before .