Holt-Oram Syndrome Differential Diagnoses

  • Author: Craig T Basson, MD, PhD; Chief Editor: Park W Willis IV, MD   more...
 
Updated: Jul 12, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Craig T Basson, MD, PhD  Gladys and Roland Harriman Professor of Medicine, Director of the Center for Molecular Cardiology, Director of Cardiovascular Research, Division of Cardiology, Department of Medicine, Weill Cornell Medical College; Attending Physician, New York Presbyterian Hospital

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

Disclosure: Nothing to disclose.

Coauthor(s)

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

Disclosure: Nothing to disclose.

Luke K Kim, MD  Fellow, 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

Russell F Kelly, MD  Program Director, Assistant Professor, Department of Internal Medicine, Division of Cardiology, Cook County Hospital, Rush Medical College

Russell F Kelly, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Frank M Sheridan, MD  Cardiology, Providence Everett Medical Center

Frank M Sheridan, MD is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Amer Suleman, MD  Private Practice

Amer Suleman, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Institute of Stress, American Society of Hypertension, Federation of American Societies for Experimental Biology, Royal Society of Medicine, and Society of Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Chief Editor

Park W Willis IV, MD  Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine

Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography

Disclosure: Nothing to disclose.

References

  1. HOLT M, ORAM S. Familial heart disease with skeletal malformations. Br Heart J. Apr 1960;22:236-42. [Medline].

  2. 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. Mar 16 1999;96(6):2919-24. [Medline].

  3. McDermott DA, Hatcher CJ, Basson CT. Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome. Circ Res. Sep 26 2008;103(7):e96. [Medline].

  4. Cerbai E, Sartiani L. Holt-oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res. Jun 6 2008;102(11):1304-6. [Medline].

  5. 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. Mar 31 1994;330(13):885-91. [Medline].

  6. Basson CT, Solomon SD, Weissman B, et al. Genetic heterogeneity of heart-hand syndromes. Circulation. Mar 1 1995;91(5):1326-9. [Medline].

  7. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. Nov 2005;58(5):981-6. [Medline].

  8. Pete B, Harmath A, Szigeti Z, Papp C, Hajdú J. [Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography]. Orv Hetil. Nov 18 2007;148(46):2173-6. [Medline].

  9. Sunagawa S, Kikuchi A, Sano Y, Kita M, Ono K, Horikoshi T, et al. Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography. Congenit Anom (Kyoto). Mar 2009;49(1):38-41. [Medline].

  10. 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. Apr 1 2004;126A(1):93-8. [Medline].

  11. Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA, 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. Dec 2 2008;118(23):2395-451. [Medline].

  12. Caglayan AO, Koklu E, Saatci C, Gunes T, Ozkul Y, Narin N, et al. Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2). Ann Saudi Med. May-Jun 2008;28(3):209-12. [Medline].

  13. Saura D, Campos JV, Villegas M, Picó F, de la Morena G, Valdés-Chávarri M. Heart-hand syndrome. Int J Cardiol. Sep 16 2008;129(1):e7-9. [Medline].

 
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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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