eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Aortic Stenosis, Supravalvar: Differential Diagnoses & Workup

Author: Gautam K Singh, MD, DCh, MRCP, FACC, Associate Professor of Pediatrics, Division of Cardiology, Director of Noninvasive Imaging Research, Co-director of Echocardiography Laboratory, Washington University School of Medicine; Attending Faculty, Department of Pediatrics, Division of Cardiology, St Louis Children's Hospital
Contributor Information and Disclosures

Updated: Oct 27, 2009

Differential Diagnoses

Aortic Stenosis, Subaortic
Aortic Stenosis, Valvar
Cardiomyopathy, Hypertrophic

Workup

Laboratory Studies

  • No specific laboratory blood tests are required to establish the diagnosis of supravalvar aortic stenosis (SVAS).

Imaging Studies

  • Echocardiography: The anatomic diagnosis of supravalvular aortic stenosis can reliably be made from 2-dimensional echocardiography that uses multiple views, including parasternal, apical long-axis, and suprasternal (see Media file 1).

    Two-dimensional suprasternal echocardiographic im...

    Two-dimensional suprasternal echocardiographic image of supravalvular aortic stenosis.

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    Two-dimensional suprasternal echocardiographic im...

    Two-dimensional suprasternal echocardiographic image of supravalvular aortic stenosis.


    • In supravalvular aortic stenosis with hourglass deformity and diffuse hypoplasia, the diameter of the ascending aorta is smaller than that of the aortic root. In supravalvular aortic stenosis with fibrous diaphragm, the external ascending aortic diameter is normal, although echogenic membrane is commonly observed above the sinuses of Valsalva.
    • Turbulent color flow mapping indicates the site of hemodynamically significant obstruction and can reveal coronary ostial stenosis, the incidence of which is high in SVAS.11
    • Doppler peak gradient overestimates and, therefore, does not predict catheter-measured gradient well in patients with supravalvular aortic stenosis and may not be reliable in assessing its severity and guiding the need for intervention.12
  • MRI: This can provide high definition of the lesion, although obtaining an MRI of infants and young children may require sedation, which carries risk of sudden death and, therefore, should be undertaken with close supervision and administered by an experienced anesthesiologist. Alternatively, multislice CT with angiography, which can generate high-resolution images of the lesion within seconds, can be used. However, this process exposes the child to radiation.
  • Chest radiography: Cardiac silhouette may be variably increased, and the ascending aorta may be asymmetrically dilated. The presence of both findings indicates hemodynamically significant supravalvular aortic stenosis.
  • Cineangiography: A biplane left ventriculogram and an aortogram can reveal the morphology of supravalvular narrowing, stenosis of the arch vessels, abnormalities of aortic root, and dilated coronary arteries (see Media file 2). Right ventricular or pulmonary arterial angiography should be performed simultaneously to discern the presence of peripheral pulmonary artery stenosis, particularly in Williams syndrome.

    Aortogram of a patient with supravalvular aortic ...

    Aortogram of a patient with supravalvular aortic stenosis and dilated sinus of Valsalva.

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    Aortogram of a patient with supravalvular aortic ...

    Aortogram of a patient with supravalvular aortic stenosis and dilated sinus of Valsalva.

Other Tests

  • Electrocardiography: Electrocardiography usually reveals left ventricular hypertrophy, depending on the severity of stenosis. ST-T segment changes may be present with involvement of coronary ostia and the coronary arteries.
  • Genetic evaluation: Obtain a genetic evaluation for patients with supravalvular aortic stenosis to discern the diagnosis of Williams syndrome, which is often associated with supravalvular aortic stenosis. Molecular diagnosis of Williams syndrome can be made by fluorescent in situ hybridization (FISH) using Williams probe.

Procedures

  • A retrograde aortic catheterization with an end-hole catheter can be used to localize the site of obstruction by showing the pressure gradient above the aortic valve on pullback tracing. Cardiac catheterization along with angiography is indicated to evaluate the severity of the lesion and to confirm the coexisting anomalies prior to surgery if they cannot be accurately assessed with other modalities. Blade balloon angioplasty has been effective for associated peripheral pulmonary artery stenosis when conventional balloon angioplasty fails.
  • Postcatheterization precautions include hemorrhage, vascular disruption after balloon dilation, pain, nausea and vomiting, and arterial or venous obstruction from thrombosis or spasm.
  • Complications include rupture of blood vessel, tachyarrhythmias, bradyarrhythmias, and vascular occlusion.
  • Cardiac asystole and mortality due to coronary events have been reported during catheterization and during the postprocedure period. Cardiac catheterization, therefore, should be undertaken only if clearly indicated and should be done under general anaesthesia, which should be undertaken with close supervision and administered by an experienced anesthesiologist.

Histologic Findings

  • Myocardial hypertrophy, coronary intimal hyperplasia, and atherosclerotic changes can be observed in most cases. Subendocardial fibrosis may be present in severe cases of supravalvular aortic stenosis.
  • Abnormal deposition of elastin in arterial walls of patients with supravalvular aortic stenosis has been seen, which leads to the increased proliferation of arterial smooth muscle cells, resulting in the formation of hyperplastic intimal lesions.

More on Aortic Stenosis, Supravalvar

Overview: Aortic Stenosis, Supravalvar
Differential Diagnoses & Workup: Aortic Stenosis, Supravalvar
Treatment & Medication: Aortic Stenosis, Supravalvar
Follow-up: Aortic Stenosis, Supravalvar
Multimedia: Aortic Stenosis, Supravalvar
References
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References

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  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. 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].

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  7. 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].

  8. 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].

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  10. 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].

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  13. [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].

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  20. Latson LA. Aortic stenosis: Valvular, supravalvular, fibromuscular subvalvular. In: Garson A, Bricker JT, McNamara DG, eds. The Science and Practice of Pediatric Cardiology. Philadelphia, Pa: Lea & Febiger; 1990:1334-52.

  21. Rodriguez-Revenga L, Badenas C, Carrio A, Mila M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. Nov-Dec 2005;26(6):827-31. [Medline].

  22. Sugiyama H, Veldtman GR, Norgard G, et al. Bladed balloon angioplasty for peripheral pulmonary artery stenosis. Catheter Cardiovasc Interv. May 2004;62(1):71-7. [Medline].

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Further Reading

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Keywords

supravalvular aortic stenosis, SVAS, left ventricular outflow tract obstruction, LVOT obstruction, Williams syndrome, Williams-Beuren syndrome, atherosclerosis, myocardial ischemia, Coanda effect, diffuse peripheral pulmonary artery stenosis

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Contributor Information and Disclosures

Author

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

Medical Editor

Charles I Berul, MD, Professor of Pediatrics, 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 Congential Electrophysiology Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

Gilbert Z Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center
Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Chief Editor

Steven R Neish, MD, SM, Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine
Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association
Disclosure: Nothing to disclose.

 
 
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