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.

journal_name

Cardiol Young

journal_title

Cardiology in the young

authors

Vianna CB,Miura N,Pereira AC,Jatene MB

doi

10.1017/S1047951111000072

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

351-3

issue

3

eissn

1047-9511

issn

1467-1107

pii

S1047951111000072

journal_volume

21

pub_type

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