Medication Summary

No medications are effective in treating the anatomical defects of patients with Holt-Oram syndrome. Antibiotic prophylaxis should be applied following standard American Heart Association/American College of Cardiology guidelines for patients with congenital heart disease.^[21]Anticoagulation should be considered in patients with pulmonary hypertension. Cardioversion, antiarrhythmic drug therapy, or anticoagulation should be considered in patients with atrial fibrillation.

Holt M, Oram S. Familial heart disease with skeletal malformations. Br Heart J. 1960 Apr. 22:236-42. [QxMD MEDLINE Link]. [Full Text].
Varela D, Conceicao N, Cancela ML. Transcriptional regulation of human T-box 5 gene (TBX5) by bone- and cardiac-related transcription factors. Gene. 2021 Feb 5. 768:145322. [QxMD MEDLINE Link].
Azab B, Aburizeg D, Ji W, et al. TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects. Mol Med Rep. 2022 Jun. 25(6):210. [QxMD MEDLINE Link]. [Full Text].
Basson CT, Huang T, Lin RC, et al. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A. 1999 Mar 16. 96(6):2919-24. [QxMD MEDLINE Link]. [Full Text].
Nguyen JL, Ho CA. Congenital disorders of the pediatric thumb. JBJS Rev. 2022 Mar 1. 10(3):[QxMD MEDLINE Link].
McDermott DA, Hatcher CJ, Basson CT. Atrial fibrillation and other clinical manifestations of altered TBX5 dosage in typical Holt-Oram syndrome. Circ Res. 2008 Sep 26. 103(7):e96. [QxMD MEDLINE Link]. [Full Text].
Cerbai E, Sartiani L. Holt-Oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res. 2008 Jun 6. 102(11):1304-6. [QxMD MEDLINE Link]. [Full Text].
Basson CT, Cowley GS, Solomon SD, et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med. 1994 Mar 31. 330(13):885-91. [QxMD MEDLINE Link]. [Full Text].
Basson CT, Solomon SD, Weissman B, et al. Genetic heterogeneity of heart-hand syndromes. Circulation. 1995 Mar 1. 91(5):1326-9. [QxMD MEDLINE Link]. [Full Text].
McDermott DA, Bressan MC, He J, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov. 58(5):981-6. [QxMD MEDLINE Link]. [Full Text].
Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW. Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 2014 Sep 12. 1-6. [QxMD MEDLINE Link].
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Sunagawa S, Kikuchi A, Sano Y, et al. Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography. Congenit Anom (Kyoto). 2009 Mar. 49(1):38-41. [QxMD MEDLINE Link]. [Full Text].
[Guideline] Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2019 Apr 2. 73(12):e81-e192. [QxMD MEDLINE Link]. [Full Text].
Paladini D, Tiesi M, Buffi D, Tuo G, Marasini M. Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. Ultrasound Obstet Gynecol. 2014 Apr. 43(4):475-6. [QxMD MEDLINE Link]. [Full Text].
Wall LB, Piper SL, Habenicht R, Oishi SN, Ezaki M, Goldfarb CA. Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 2015 Sep. 40(9):1764-8. [QxMD MEDLINE Link]. [Full Text].
Al-Qattan MM, Abou Al-Shaar H. Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. Gene. 2015 Apr 15. 560(2):129-36. [QxMD MEDLINE Link].
He J, McDermott DA, Song Y, Gilbert F, Kligman I, Basson CT. Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome. Am J Med Genet A. 2004 Apr 1. 126A(1):93-8. [QxMD MEDLINE Link].
[Guideline] Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the management of adults with congenital heart disease: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines for the management of adults with congenital heart disease). Circulation. 2008 Dec 2. 118(23):2395-451. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Holt-Oram Syndrome. Posteroanterior radiograph of the hands of a patient with Holt-Oram syndrome. The distal phalanx of the left thumb is hypoplastic. The carpal bones of both hands are abnormal, but the abnormalities on the left side are greater than those on the right side. Left-sided upper limb radial ray abnormalities are often greater than those on the right side. The scaphoid and trapezium of the left hand are enlarged and misshapen, resulting in a distal displacement of the thumb. Note the marked abnormalities of the left capitate and hamate. The left radial stylus is flattened.

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Author

Craig T Basson, MD, PhD Translational Medicine Head – Cardiovascular, Translational Medicine Head - Diabetes and Metabolism, Novartis Institutes for BioMedical Research

Craig T Basson, MD, PhD is a member of the following medical societies: American College of Cardiology, American Heart Association

Disclosure: Nothing to disclose.

Coauthor(s)

Carl J Vaughan, MD, MRCP Adjunct Assistant Professor, Department of Internal Medicine, Division of Cardiology, Weill Medical College of Cornell University; Consulting Cardiologist, Mercy University Hospital, Ireland

Carl J Vaughan, MD, MRCP is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Heart Association

Disclosure: Nothing to disclose.

Luke K Kim, MD Assistant Professor of Medicine, Department of Internal Medicine, Division of Cardiology, New York Presbyterian Hospital, Weill Cornell Medical Center

Disclosure: Nothing to disclose.

Deborah A McDermott, MS, CGC Genetic Counselor/Research Associate, Department of Medicine, Division of Cardiology, Weill Medical College of Cornell University

Deborah A McDermott, MS, CGC is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Yasmine S Ali, MD, MSCI, FACC, FACP Assistant Clinical Professor of Medicine, Vanderbilt University School of Medicine; President, LastSky Writing, LLC

Yasmine S Ali, MD, MSCI, FACC, FACP is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Heart Association, American Medical Association, American Medical Writers Association, National Lipid Association, Tennessee Medical Association

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: LastSky Writing;Philips Healthcare;M Health;Athena Health;PeerView Institute;Verywell Health; HealthCentral;MedEdicus;Pharmaceutical Training Institute;Elsevier;MedStudy;North American Thrombosis Forum;WellnessVerge;Prose Media; AKH, Inc.<br/>Serve(d) as a speaker or a member of a speakers bureau for: North American Thrombosis Forum.

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