Supravalvular aortic stenosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Usama Talib, BSc, MD [2]

Overview

Supravalvular aortic stenosis is the most uncommon cause of left ventricular outflow tract obstruction (LVOT) accounting for 8% of congenital cases of LVOT obstruction. It is seen in 10% patients with aortic stenosis.[1]

Pathophysiology

  1. Obstruction occurs just above the coronary ostium at the level of the sinotubular junction:[2][3][4]
    • Hourglass type: single discrete narrowing or long tubular hypoplasia (the most common)
    • Hypoplastic type: uniform narrowing of the ascending aorta.
  1. Associated lesion is peripheral pulmonary arterial stenosis
  2. Because of high perfusion pressure of the coronary arteries there is premature coronary artery disease.
  3. Coronary arteries may be obstructed by an adjacent stenotic ring.
  4. A high concentration of Integrin B3 is thought to be a cause and its inhibition has helped with the treatment.[5]
  5. ELN mutation can also cause supra valvular aortic stenosis. [4]

Associated conditions

The following conditions can be associated with supra valvular aortic stenosis:[6]

  • Frequently accompanied by aortic regurgitation, due to jet on aortic valve.
  • Associated with elfin facies, high calcium.

Genetics

Diagnosis

Physical Examination

  • 50% have a characteristically greater pulse and systolic blood pressure in the right carotid and brachial arteries than in the left.
  • The systolic murmur is maximal below the right clavicle and radiates primarily to the right carotid artery.
  • No ejection click is present, no diastolic murmur.

Echocardiography

  • 2 Dimensional echo and doppler useful for diagnosis
  • Outflow gradient with narowing of aorta is noticed.


Treatment

2008 ACC/AHA Guidelines for the Management of Adults With Congenital Heart Disease (DO NOT EDIT)[8]

Evaluation of the Unoperated Patient (DO NOT EDIT)[8]

Class I
"1. TTE and/or TEE with Doppler and either MRI or CT should be performed to assess the anatomy of the LVOT, the ascending aorta, coronary artery anatomy and flow, and main and branch pulmonary artery anatomy and flow. (Level of Evidence: C)"
"2. Assessment of anatomy and flow in the proximal renal arteries is recommended in ACHD patients with Supra AS. (Level of Evidence: C)"
"3. Assessment of systolic and diastolic ventricular function is recommended in ACHD patients with SupraAS. (Level of Evidence: C)"
"4. Assessment of aortic and mitral valve anatomy and function is recommended in ACHD patients with SupraAS. (Level of Evidence: C)"
"5. Adults with a history or presence of SupraAS should be screened periodically for myocardial ischemia. (Level of Evidence: C)"
Class IIa
"1. Exercise testing, dobutamine stress testing, positron emission tomography, or stress sestamibi with adenosine studies can be useful to evaluate the adequacy of myocardial perfusion. (Level of Evidence: C)"

Interventional and Surgical Therapy (DO NOT EDIT)[8]

Class I
"1. Operative intervention should be performed for patients with supravalvular LVOT obstruction (discrete or diffuse) with symptoms (ie, angina, dyspnea, or syncope) and/or mean gradient greater than 50 mm Hg or peak instantaneous gradient by Doppler echocardiography greater than 70 mm Hg. (Level of Evidence: B)"
"2. Surgical repair is recommended for adults with lesser degrees of supravalvular LVOT obstruction and the following indications:"
"a. Symptoms (ie, angina, dyspnea, or syncope). (Level of Evidence: B)"
"b. LV hypertrophy. (Level of Evidence: C)"
"c. Desire for greater degrees of exercise or a planned pregnancy. (Level of Evidence: C) "
"d. LV systolic dysfunction. (Level of Evidence: C) "
"3. Interventions for coronary artery obstruction in patients with SupraAS should be performed in ACHD centers with demonstrated expertise in the interventional management of such patients. (Level of Evidence: C) "

Key Issues to Evaluate and Follow-Up (DO NOT EDIT) [8]

Class I
"1. Both operated and unoperated patients with SupraAS should be followed up annually at a regional ACHD center. (Level of Evidence: C)"
"2. Long-term psychosocial assessment and oversight, including the need for legal guardianship, are recommended for patients with Williams syndrome. (Level of Evidence: C)"

Reproduction (DO NOT EDIT)[8]

Class I
"1. SupraAS, whether associated with Williams syndrome or nonsyndromic, has a strong likelihood of being an inherited disorder. Undetected family members may be at risk for hypertension, coronary disease, or stroke; therefore, all available relatives should be screened. (Level of Evidence: C)"
"2. Patients with SupraAS and significant obstruction, coronary involvement, or aortic disease should be counseled against pregnancy. (Level of Evidence: C) "

Coronary Anomalies Associated With Supravalvular Aortic Stenosis (DO NOT EDIT)[8]

Class I
"1. Adults with a history or presence of SupraAS should be screened every 1 or 2 years for myocardial ischemia. (Level of Evidence: C)"
"2. Interventions for coronary artery obstruction in patients with SupraAS should be performed in ACHD centers with demonstrated expertise in the interventional management of these patients. (Level of Evidence: C)"

References

  1. Idhrees M, Cherian VT, Menon S, Mathew T, Dharan BS, Jayakumar K (2016). "Bovine aortic arch with supravalvular aortic stenosis". Indian Heart J. 68 Suppl 2: S83–S84. doi:10.1016/j.ihj.2015.07.007. PMC 5067379. PMID 27751339.
  2. Kim do Y, Kim HW (2016). "Atypical initial presentation of Takayasu arteritis as isolated supra-valvular aortic stenosis". J Cardiothorac Surg. 11: 15. doi:10.1186/s13019-016-0408-0. PMC 4717593. PMID 26782665.
  3. Galoin-Bertail C, Capderou A, Belli E, Houyel L (2016). "The mid-term outcome of primary open valvotomy for critical aortic stenosis in early infancy - a retrospective single center study over 18 years". J Cardiothorac Surg. 11 (1): 116. doi:10.1186/s13019-016-0509-9. PMC 4970304. PMID 27484000.
  4. 4.0 4.1 Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB (2016). "Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm". Eur J Med Genet. doi:10.1016/j.ejmg.2016.11.004. PMID 27866049.
  5. Misra A, Sheikh AQ, Kumar A, Luo J, Zhang J, Hinton RB; et al. (2016). "Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis". J Exp Med. 213 (3): 451–63. doi:10.1084/jem.20150688. PMC 4813675. PMID 26858344.
  6. Royston R, Howlin P, Waite J, Oliver C (2016). "Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis". J Autism Dev Disord. doi:10.1007/s10803-016-2909-z. PMID 27696186.
  7. Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ; et al. (1993). "Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7". Hum Mol Genet. 2 (7): 869–73. PMID 8364568.
  8. 8.0 8.1 8.2 8.3 8.4 8.5 Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA; et al. (2008). "ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". J Am Coll Cardiol. 52 (23): e1–121. doi:10.1016/j.jacc.2008.10.001. PMID 19038677.



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