title: Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.
abstract: The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.
authors.affiliation: Heart Institute (InCor), Clinical Department, University of Sao Paulo, Avenue Dr Eneas Carvalho Aguiar 44, Sao Paulo, Brazil. caio.vianna@incor.usp.br
authors.forename: Caio B
authors.initials: CB
authors.lastname: Vianna
authors.forename: Nana
authors.initials: N
authors.lastname: Miura
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.forename: Marcelo B
authors.initials: MB
authors.lastname: Jatene
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D003330:Coronary Vessel Anomalies / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000150:complications*; D006344:Heart Septal Defects, Atrial / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000150:complications*; D008297:Male; D009154:Mutation; D011859:Radiography; D020825:T-Box Domain Proteins / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000150:complications*
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5