title: Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch.
abstract: 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 TBX5 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.
authors.affiliation: Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong. lawkm@hkstar.com
authors.forename: K M
authors.initials: KM
authors.lastname: Law
authors.forename: K T
authors.initials: KT
authors.lastname: Tse
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001017:Aortic Coarctation / Q000000981:diagnostic imaging / Q000235:genetics; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods; D005865:Gestational Age; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics; D016216:Ultrasonography, Prenatal; D038062:Upper Extremity Deformities, Congenital / Q000000981:diagnostic imaging* / Q000503:physiopathology
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5