Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Al Kabbani A, Bell D, et al. Holt-Oram syndrome. Reference article, Radiopaedia.org (Accessed on 19 Mar 2024) https://doi.org/10.53347/rID-7353
Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:
Genetics
A large proportion of affected individuals have mutations in the TBX5 gene. It is thought to carry an autosomal dominant inheritance with full penetration but variable expression. However between 50 and 80% of cases may be due to new mutations.
Antenatal ultrasound
The diagnosis of Holt-Oram syndrome may be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical.
History and etymology
Two British cardiologists, Mary Clayton Holt (1924-1993) 10 and Samuel Oram (1913-1991) 11, described the condition in 1960 9.
General considerations include
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3. Brons JT, Van geijn HP, Wladimiroff JW et-al. Prenatal ultrasound diagnosis of the Holt-Oram syndrome. Prenat. Diagn. 1988;8 (3): 175-81. - Pubmed citation
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5. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
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6. Sepulveda W, Enriquez G, Martinez JL et-al. Holt-Oram syndrome: contribution of prenatal 3-dimensional sonography in an index case. J Ultrasound Med. 2004;23 (7): 983-7. J Ultrasound Med (full text) - Pubmed citation
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7. Shastri N. Picture of the month. Holt-Oram syndrome. Arch Pediatr Adolesc Med. 2007;161 (7): 711. doi:10.1001/archpedi.161.7.711 - Pubmed citation
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8. Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of Holt-Oram syndrome. J Clin Ultrasound. 2000;28 (2): 98-100. J Clin Ultrasound (link) - Pubmed citation
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9. Holt M, Oram S. Familial heart disease with skeletal malformations. (1960) British heart journal. 22: 236-42. Pubmed
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10. Greta Beighton. The Person Behind the Syndrome. (2012) ISBN: 9781447109259
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11. Norman Williams, P Ronan O'Connell. Bailey & Love's Short Practice of Surgery 26E. (2013) ISBN: 9781444165029
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