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Holt–Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery

Published online by Cambridge University Press:  28 January 2011

Caio B. Vianna ,
Nana Miura ,
Alexandre C. Pereira  and
Marcelo B. Jatene
Caio B. Vianna*
Affiliation:
Heart Institute (InCor), University of Sao Paulo, Clinical Department, Sao Paulo, Brazil
Nana Miura
Affiliation:
Heart Institute (InCor), University of Sao Paulo, Clinical Department, Sao Paulo, Brazil
Alexandre C. Pereira
Affiliation:
Heart Institute (InCor), University of Sao Paulo, Clinical Department, Sao Paulo, Brazil
Marcelo B. Jatene
Affiliation:
Heart Institute (InCor), University of Sao Paulo, Clinical Department, Sao Paulo, Brazil
*
Correspondence to: C. B. Vianna, Heart Institute (InCor), University of Sao Paulo, Avenue Dr Eneas Carvalho Aguiar 44, 05403.900, Sao Paulo, Brazil. Tel: +55 113 069 5387; Fax: +55 113 069 5348; E-mail: [email protected]
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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.

Keywords

Congenital cardiac diseaseischaemic cardiac diseaseseptal defectsgenetics
Type
Brief Reports
Information
Cardiology in the Young , Volume 21 , Issue 3 , June 2011 , pp. 351 - 353
Copyright
Copyright © Cambridge University Press 2011

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