Holt-Oram syndrome: a case report.
Rev Port Cardiol
; 33(11): 737.e1-5, 2014 Nov.
Article
in En
| MEDLINE
| ID: mdl-25455949
ABSTRACT
Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-old man with known morphological alterations of the upper limbs since birth and congenital cardiac defect (atrial septal defect), who later in life also manifested with advanced atrioventricular block.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Lower Extremity Deformities, Congenital
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Upper Extremity Deformities, Congenital
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Heart Defects, Congenital
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Heart Septal Defects, Atrial
Limits:
Aged
/
Humans
/
Male
Language:
En
Journal:
Rev Port Cardiol
Journal subject:
CARDIOLOGIA
Year:
2014
Document type:
Article