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 two-dimensional and 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.^[15]

Differential Diagnoses

Workup

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. 2010 Mar. 18(3):317-23. [QxMD MEDLINE Link]. [Full Text].
Peterson TA, Todd DB, Edwards JE. Supravalvular aortic stenosis. J Thorac Cardiovasc Surg. 1965 Nov. 50(5):734-41. [QxMD MEDLINE Link].
Edwards JE. Pathology of left ventricular outflow tract obstruction. Circulation. 1965. 31:586-99.
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. 2000 Dec. 120(6):1040-6. [QxMD MEDLINE Link].
French JW, Guntheroth WG. An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect. Circulation. 1970 Jul. 42(1):31-6. [QxMD MEDLINE Link].
Gersony WM, Hayes CJ, Driscoll DJ, et al. Bacterial endocarditis in patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. Circulation. 1993 Feb. 87(2 Suppl):I121-6. [QxMD MEDLINE Link].
Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep. 5(1):11-6. [QxMD MEDLINE Link].
Vindhyal MR, Priyadarshni S, Eid F. Supravalvar aortic stenosis. StatPearls [Internet]. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
Brown JW, Ruzmetov M, Vijay P, et al. Surgical repair of congenital supravalvular aortic stenosis in children. Eur J Cardiothorac Surg. 2002 Jan. 21(1):50-6. [QxMD MEDLINE Link].
Akkaya G, Bilen C, Tuncer ON, Atay Y. Requirement for repetitive surgical approaches at supravalvular aortic stenosis. Turk Gogus Kalp Damar Cerrahisi Derg. 2019 Oct. 27(4):572-75. [QxMD MEDLINE Link]. [Full Text].
Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol. 1990 Jun. 15(7):1625-30. [QxMD MEDLINE Link].
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. 2004 Sep 8. 292(10):1179-87. [QxMD MEDLINE Link].
Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996 Dec. 129(6):926-31. [QxMD MEDLINE Link].
Pieles GE, Ofoe V, Morgan GJ. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. Congenit Heart Dis. 2014 May-Jun. 9(3):E85-9. [QxMD MEDLINE Link].
Martin R, Lairez O, Boudou N, et al. Relation between left ventricular outflow tract obstruction and left ventricular shape in patients with hypertrophic cardiomyopathy: A cardiac magnetic resonance imaging study. Arch Cardiovasc Dis. 2013 Aug-Sep. 106(8-9):440-7. [QxMD MEDLINE Link].
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. 2000 Apr. 13(4):255-63. [QxMD MEDLINE Link].
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. 2000 Jul 1. 86(1):114-6. [QxMD MEDLINE Link].
Sugiyama H, Veldtman GR, Norgard G, Lee KJ, Chaturvedi R, Benson LN. Bladed balloon angioplasty for peripheral pulmonary artery stenosis. Catheter Cardiovasc Interv. 2004 May. 62(1):71-7. [QxMD MEDLINE Link].
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. 2005 May-Jun. 42(3):190-201. [QxMD MEDLINE Link].
[Guideline] Feltes TF, Bacha E, Beekman RH 3rd, et al. Indications for cardiac catheterization and intervention in pediatric cardiac disease: a scientific statement from the American Heart Association. Circulation. 2011 Jun 7. 123 (22):2607-52. [QxMD MEDLINE Link]. [Full Text].
Kavarana MN, Riley M, Sood V, et al. Extended single-patch repair of supravalvar aortic stenosis: a simple and effective technique. Ann Thorac Surg. 2012 Apr. 93(4):1274-8; discussion 1278-9. [QxMD MEDLINE Link].
Ayoub C, Ranasinghe I, Yiannikas J. Successful negative inotropic treatment of acute left ventricular outflow tract obstruction by elongated mitral valve leaflet. J Clin Ultrasound. 2014 May. 42(4):245-8. [QxMD MEDLINE Link].
McElhinney DB, Petrossian E, Tworetzky W, Silverman NH, Hanley FL. Issues and outcomes in the management of supravalvar aortic stenosis. Ann Thorac Surg. 2000 Feb. 69(2):562-7. [QxMD MEDLINE Link].
[Guideline] Nishimura RA, Otto CM, Bonow RO, et al. 2017 AHA/ACC focused update of the 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2017 Jul 11. 70(2):252-89. [QxMD MEDLINE Link]. [Full Text].
Boggs W. New Guidelines Support Expanded Use of TAVR. Reuters Health Information. March 24, 2017.
[Guideline] Baltimore RS, Gewitz M, Baddour LM, et al, for the American Heart Association Rheumatic Fever, Endocarditis, et al. Infective endocarditis in childhood: 2015 update: a scientific statement from the American Heart Association. Circulation. 2015 Oct 13. 132(15):1487-515. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Two-dimensional suprasternal echocardiographic image of supravalvar aortic stenosis.
Aortogram of a patient with supravalvar aortic stenosis and dilated sinus of Valsalva.

of 2

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, , MRCP 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, , MRCP is a member of the following medical societies: American College of Cardiology, American Heart Association, American Society of Echocardiography, Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Pediatic 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, Society for Cardiovascular Angiography and Interventions

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: Abbott Medical .

Additional Contributors

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, Heart Rhythm Society, Pediatric and Congenital Electrophysiology Society, Society for Pediatric Research

Disclosure: Nothing to disclose.