eMedicine Specialties > Cardiology > Congenital Heart Disease in the Adult

Holt-Oram Syndrome: Treatment & Medication

Author: Craig T Basson, MD, PhD, FAHA, FACC, Director, Cardiovascular Research, The New York Presbyterian Hospital; Professor, Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University
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; Luke K Kim, MD, Fellow, Department of Internal Medicine, Division of Cardiology, New York Presbyterian Hospital, Weill Cornell Medical Center; Deborah A McDermott, MS, CGC, Genetic Counselor/Research Associate, Department of Medicine, Division of Cardiology, Weill Medical College of Cornell University
Contributor Information and Disclosures

Updated: May 28, 2009

Treatment

Medical Care

  • Evaluation can usually be performed in an outpatient setting, but inpatient studies and surgical treatment may be necessary.
  • Patients with advanced heart block may require a permanent pacemaker.
  • Surgical therapy can be used to correct cardiac defects or to possibly improve limb function.

Surgical Care

  • Most cardiac lesions such as ASD and VSD are amenable to complete surgical correction if pulmonary hypertension or ventricular failure has not developed. Several percutaneous transcatheter devices that can be placed to occlude the septum are in US Food and Drug Administration–approved clinical trials and may be nonsurgical options in the future.
  • Septal defects without hemodynamically significant shunts do not require correction.
  • Children with severe limb anomalies can be referred to orthopedic surgeons for consideration of procedures such as pollicization of the fifth digit (to improve upper limb function).
  • Children with severe limb shortening may benefit from prostheses.

Consultations

  • Cardiologist
  • Geneticist
  • Cardiothoracic surgeon
  • Orthopedic surgeon

Diet

No special diet is required.

Activity

Limit activity if heart failure or persistent cardiac sequelae are present.

Medication

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.11 Anticoagulation should be considered in patients with pulmonary hypertension. Cardioversion, antiarrhythmic drug therapy, or anticoagulation should be considered in patients with atrial fibrillation.

More on Holt-Oram Syndrome

Overview: Holt-Oram Syndrome
Differential Diagnoses & Workup: Holt-Oram Syndrome
Treatment & Medication: Holt-Oram Syndrome
Follow-up: Holt-Oram Syndrome
Multimedia: Holt-Oram Syndrome
References
Further Reading
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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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Further Reading

Clinical guidelines
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular disease.
American Heart Association - Professional Association.  2004 Jun 8.  10 pages.  NGC:003778

ACR Appropriateness Criteria® suspected congenital heart disease in the adult.
American College of Radiology - Medical Specialty Society.  1998 (revised 2007).  8 pages.  NGC:005988

Clinical trials

Clinical and Genetic Studies of VACTERL Association

Modified Perfusion for Neonatal Aortic Arch Reconstruction

Related eMedicine topics

Holt-Oram Syndrome  (Pediatrics)

Syndactyly

Hand, Congenital Hand Deformities 

Atrial Septal Defect

Radial Clubhand

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Keywords

Holt-Oram syndrome, heart-hand syndrome, hand-heart syndrome, heart hand syndrome, hand heart syndrome, congenital heart defect, congenital cardiac defect, atrial septal defect, ASD, ventricular septal defect, VSD, thumb abnormality, heart malformation, upper limb malformation, pseudothalidomide syndrome, carpal bone malformation, carpal bone fusion, carpal bone abnormality, inherited cardiovascular disease, inherited heart disease, inherited cardiac disease, Eisenmenger syndrome

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Contributor Information and Disclosures

Author

Craig T Basson, MD, PhD, FAHA, FACC, Director, Cardiovascular Research, The New York Presbyterian Hospital; Professor, Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University
Craig T Basson, MD, PhD, FAHA, FACC 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.

Medical Editor

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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

Amer Suleman, MD, Consultant in Electrophysiology and Cardiovascular Medicine, Department of Internal Medicine, Division of Cardiology, Medical City Dallas Hospital
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.

 
 
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