Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Campos A, Sharma R, et al. Holt-Oram syndrome. Reference article, Radiopaedia.org (Accessed on 15 Mar 2025) https://doi.org/10.53347/rID-7353
Holt-Oram syndrome (HOS), also known as heart-hand syndrome, 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.
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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1. Rypens F, Dubois J, Garel L, Fournet J, Michaud J, Grignon A. Obstetric US: Watch the Fetal Hands. Radiographics. 2006;26(3):811-29; discussion 830-1. doi:10.1148/rg.263055113 - Pubmed
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2. Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases. Radiographics. 2008;28(4):1061-77. doi:10.1148/rg.284075122 - Pubmed
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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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4. Sletten L & Pierpont M. Variation in Severity of Cardiac Disease in Holt-Oram Syndrome. Am J Med Genet. 1996;65(2):128-32. doi:10.1002/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O - Pubmed
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5. Michael Entezami. Ultrasound Diagnosis of Fetal Anomalies. (2004) ISBN: 9781588902122 - Google Books
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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
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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. Br Heart J. 1960;22(2):236-42. doi:10.1136/hrt.22.2.236 - Pubmed
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10. Greta Beighton. The Person Behind the Syndrome. (2012) ISBN: 9781447109259 - Google Books
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11. Norman Williams, P Ronan O'Connell. Bailey & Love's Short Practice of Surgery 26E. (2013) ISBN: 9781444165029 - Google Books
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