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Holt–Oram Syndrome Associated with Complex Congenital Heart Disease: A Rare Case Presentation and Literature Review
- Source :
- Open Access Macedonian Journal of Medical Sciences, Vol 8, Iss C (2020), Open Access Macedonian Journal of Medical Sciences; Vol. 8 No. C (2020): C-Case Reports; 36-40
- Publication Year :
- 2020
- Publisher :
- ID Design 2012/DOOEL Skopje, 2020.
-
Abstract
- BACKGROUND: First described by Holt and Oram in 1960 in a four-generation family with atrial septal defects and thumb abnormalities, is an inherited disorder characterized by abnormalities of the upper limbs and heart. This syndrome is characterized by upper extremity malformations involving radial, thenar, or carpal bones. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. About 75% of individuals with Holt–Oram syndrome (HOS) have a congenital heart malformation which may include an atrial or ventricular septal defect or heart block. In rare cases, the syndrome can affect other organs and systems which can be life threatening. CASE REPORT: Here, we present a newborn with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized brachydactyly, limited bilateral supination due to radioulnar synostosis, and associated with complex heart disease and hypoplastic tricuspid valve. CONCLUSION: In our case HOS is associated with complex congenital heart defects including atrial septal defect, ventricular septal defect with hypoplastic tricuspid valve. Based on the listed literature we didn’t find any other case where tricuspid valve was affected.
- Subjects :
- medicine.medical_specialty
Heart disease
Atriodigital syndrome
Heart block
Heart malformation
lcsh:Medicine
030209 endocrinology & metabolism
Atrial septal defects
03 medical and health sciences
0302 clinical medicine
Internal medicine
medicine
030212 general & internal medicine
cardiovascular diseases
TBX5 gene
Congenital heart disease
Tricuspid valve
Holt–Oram syndrome
business.industry
Brachydactyly
lcsh:R
General Medicine
Hypoplastic tricuspid valve
medicine.disease
medicine.anatomical_structure
Cardiology
cardiovascular system
business
Subjects
Details
- Language :
- English
- ISSN :
- 18579655
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- Open Access Macedonian Journal of Medical Sciences
- Accession number :
- edsair.doi.dedup.....aff2b824ff9cfa7823ef202a07818a59