Pediatric Supravalvar Aortic Stenosis Differential Diagnoses

  • Author: Anita Krishnan, MD; more...
 
Updated: Mar 29, 2011
 
 

Diagnostic Considerations

Supravalvar aortic stenosis (SVAS) should be considered in the differential diagnosis of children or infants presenting with a suspicious murmur or with signs of syncope, fatigue, angina, exercise intolerance, or left ventricular hypertrophy or dysfunction. Additionally, a cardiac evaluation should be performed with this diagnosis in mind in an infant or child with Williams syndrome.

It should be differentiated from valvar and subvalvar aortic stenosis. This differentiation can be made through the use of pulse wave echocardiography to delineate the level of obstruction and through measurements of the aorta above the level of the sinotubular junction. Cardiac catheterization or MRI is frequently indicated after the diagnosis of SVAS is made in order to evaluate for coronary involvement or stenosis of the arch vessels.

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Anita Krishnan, MD  Assistant Professor of Pediatrics, George Washington University School of Medicine; Attending Physician, Division of Cardiology, Children's National Medical Center

Disclosure: Nothing to disclose.

Coauthor(s)

Gautam K Singh, MD, DCh, MRCP  Associate Professor of Pediatrics, Division of Cardiology, Director of Noninvasive Imaging Research, Co-Director of Echocardiography Laboratory, Washington University in St Louis School of Medicine; Attending Faculty, Department of Pediatrics, Division of Cardiology, St Louis Children's Hospital

Gautam K Singh, MD, DCh, MRCP is a member of the following medical societies: American College of Cardiology, American Heart Association, American Society of Echocardiography, and Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles I Berul, MD  Professor of Pediatrics and Integrative Systems Biology, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center

Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Cardiac Electrophysiology Society, Heart Rhythm Society, Pediatric and Congenital Electrophysiology Society, and Society for Pediatric Research

Disclosure: Johnson & Johnson Consulting fee Consulting

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John W Moore, MD, MPH  Professor of Clinical Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, University of California San Diego School of Medicine; Director of Cardiology, Rady Children's Hospital

John W Moore, MD, MPH is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

References

  1. Micale L, Turturo MG, Fusco C, et al. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet. Oct 21 2009;[Medline].

  2. Peterson TA, Todd DB, Edwards JE. Supravalvular aortic stenosis. J Thorac Cardiovasc Surg. Nov 1965;50(5):734-41. [Medline].

  3. Edwards JE. Pathology of left ventricular outflow tract obstruction. Circulation. 1965;31:586-99.

  4. Thistlethwaite PA, Madani MM, Kriett JM, Milhoan K, Jamieson SW. Surgical management of congenital obstruction of the left main coronary artery with supravalvular aortic stenosis. J Thorac Cardiovasc Surg. Dec 2000;120(6):1040-6. [Medline].

  5. French JW, Guntheroth WG. An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect. Circulation. Jul 1970;42(1):31-6. [Medline].

  6. Gersony WM, Hayes CJ, Driscoll DJ, et al. Bacterial endocarditis in patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. Circulation. Feb 1993;87(2 Suppl):I121-6. [Medline].

  7. Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. J Am Dent Assoc. Jun 2007;138(6):739-45, 747-60. [Medline]. [Full Text].

  8. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. Sep 1993;5(1):11-6. [Medline].

  9. Brown JW, Ruzmetov M, Vijay P, et al. Surgical repair of congenital supravalvular aortic stenosis in children. Eur J Cardiothorac Surg. Jan 2002;21(1):50-6. [Medline].

  10. Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol. Jun 1990;15(7):1625-30. [Medline].

  11. Wessel TR, Arant CB, Olson MB, et al. Relationship of physical fitness vs body mass index with coronary artery disease and cardiovascular events in women. JAMA. Sep 8 2004;292(10):1179-87. [Medline].

  12. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. Dec 1996;129(6):926-31. [Medline].

  13. Jureidini SB, Marino CJ, Singh GK, et al. Main coronary artery and coronary ostial stenosis in children: detection by transthoracic color flow and pulsed Doppler echocardiography. J Am Soc Echocardiogr. Apr 2000;13(4):255-63. [Medline].

  14. Tani LY, Minich LL, Pagotto LT, Shaddy RE. Usefulness of doppler echocardiography to determine the timing of surgery for supravalvar aortic stenosis. Am J Cardiol. Jul 1 2000;86(1):114-6. [Medline].

  15. Sugiyama H, Veldtman GR, Norgard G, Lee KJ, Chaturvedi R, Benson LN. Bladed balloon angioplasty for peripheral pulmonary artery stenosis. Catheter Cardiovasc Interv. May 2004;62(1):71-7. [Medline].

  16. Dridi SM, Foucault Bertaud A, Igondjo Tchen S, et al. Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. J Vasc Res. May-Jun 2005;42(3):190-201. [Medline].

  17. [Guideline] Bonow RO, Carabello BA, Kanu C, et al. ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to revise the 1998 Guidelines for the Management of Patients With Valvular Heart Disease): developed in collaboration with the Society of Cardiovascular Anesthesiologists: endorsed by the Society for Cardiovascular Angiography and Interventions and the Society of Thoracic Surgeons. Circulation. Aug 1 2006;114(5):e84-231. [Medline].

  18. McElhinney DB, Petrossian E, Tworetzky W, Silverman NH, Hanley FL. Issues and outcomes in the management of supravalvar aortic stenosis. Ann Thorac Surg. Feb 2000;69(2):562-7. [Medline].

 
Previous
Next
 
Two-dimensional suprasternal echocardiographic image of supravalvar aortic stenosis.
Aortogram of a patient with supravalvar aortic stenosis and dilated sinus of Valsalva.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.