CASE REPORT
Year : 2019 | Volume
: 9 | Issue : 4 | Page : 248--250
Holt–Oram syndrome: Hands are the clue to the diagnosis
Basant Kumar, Sourabh Agstam
Department of Cardiology, Advanced Cardiac Centre, PGIMER, Chandigarh, India
Correspondence Address:
Dr. Sourabh Agstam
Senior Resident, Department of Cardiology, Advanced Cardiac Centre, PGIMER, Chandigarh
India
Holt–Oram syndrome or heart–hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe a 26-year-old female with a history of shortness of breath for 5 years. She had bilateral hand deformities, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in Holt–Oram syndrome.
How to cite this article:
Kumar B, Agstam S. Holt–Oram syndrome: Hands are the clue to the diagnosis.Int J App Basic Med Res 2019;9:248-250
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How to cite this URL:
Kumar B, Agstam S. Holt–Oram syndrome: Hands are the clue to the diagnosis. Int J App Basic Med Res [serial online] 2019 [cited 2019 Dec 14 ];9:248-250
Available from: http://www.ijabmr.org/article.asp?issn=2229-516X;year=2019;volume=9;issue=4;spage=248;epage=250;aulast=Kumar;type=0 |
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