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- Title
Holt–Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.
- Authors
Vianna, Caio B.; Miura, Nana; Pereira, Alexandre C.; Jatene, Marcelo B.
- 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.
- Subjects
GENETIC mutation; CORONARY arteries; BLOOD circulation; TOMOGRAPHY; HEART diseases
- Publication
Cardiology in the Young, 2011, Vol 21, Issue 3, p351
- ISSN
1047-9511
- Publication type
Article
- DOI
10.1017/S1047951111000072