Holt-Oram Syndrome Follow-up
- Author: Craig T Basson, MD, PhD; Chief Editor: Park W Willis IV, MD more...
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.
HOLT M, ORAM S. Familial heart disease with skeletal malformations. Br Heart J. Apr 1960;22:236-42. [Medline].
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].
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].
Cerbai E, Sartiani L. Holt-oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res. Jun 6 2008;102(11):1304-6. [Medline].
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].
Basson CT, Solomon SD, Weissman B, et al. Genetic heterogeneity of heart-hand syndromes. Circulation. Mar 1 1995;91(5):1326-9. [Medline].
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].
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].
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].
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].
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].
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].
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].

