eMedicine Specialties > Cardiology > Congenital Heart Disease in the Adult

Holt-Oram Syndrome: Follow-up

Author: Craig T Basson, MD, PhD, FAHA, FACC, Gladys and Roland Harriman Professor of Medicine, Weill Cornell Medical College; Director, Cardiovascular Research, Greenberg Division of Cardiology, Department of Medicine, The New York Presbyterian Hospital
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

Follow-up

Further Inpatient Care

Admit patient for cardiovascular testing and surgical intervention.

Further Outpatient Care

  • Follow up with patients with significant congenital heart disease at least annually.
  • Periodic follow-up for cardiac conduction disease is warranted in all affected individuals.

Inpatient & Outpatient Medications

  • No specific medications are indicated for this condition.
  • Antibiotic prophylaxis and anticoagulation may be required depending on the severity of congenital heart disease.

Transfer

Transfer may be required for further diagnostic evaluation and surgical intervention.

Deterrence/Prevention

No known causative environmental factors are described; therefore, no particular deterrent is available.

Complications

  • Congestive heart failure
  • Arrhythmia
  • Heart block
  • Atrial fibrillation
  • Infectious endocarditis
  • Sudden death

Prognosis

Prognosis is generally good, but it depends on the severity of the cardiac malformations.

Patient Education

  • Ensure that family members are aware that this is an autosomal dominant disorder and that the chance is 50% that offspring of an affected individual will also have the disorder.
  • Explain that the severity of a lesion in a parent is not an indication of the potential severity in offspring.
  • For excellent patient education resources, visit eMedicine's Heart Center. Also, see eMedicine's patient education articles Atrial Fibrillation and Ventricular Septal Defect.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize structural cardiac disease or potential for arrhythmias
  • Failure to provide appropriate genetic counseling or properly inform the patient of the heritable nature of the disorder
  • Failure to institute appropriate antibiotic prophylaxis

Special Concerns

Children with very subtle limb abnormalities may mistakenly be assumed to be unaffected. However, all children or siblings of an affected individual, even those who have normal findings upon physical examination of the limbs, should undergo echocardiography and upper limb radiography.

 


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, Gladys and Roland Harriman Professor of Medicine, Weill Cornell Medical College; Director, Cardiovascular Research, Greenberg Division of Cardiology, Department of Medicine, The New York Presbyterian Hospital
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: eMedicine Salary Employment

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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