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
- 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.
- Associated lesion is peripheral pulmonary arterial stenosis
- Because of high perfusion pressure of the coronary arteries there is premature coronary artery disease.
- Coronary arteries may be obstructed by an adjacent stenotic ring.
- A high concentration of Integrin B3 is thought to be a cause and its inhibition has helped with the treatment.[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 and Treatment
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.
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2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines[8]
Diagnostic Recommendations Recommendations for Supravalvular Aortic Stenosis
| Class I
|
| 1. Aortic imaging using TTE, TEE, CMR, or CTA is recommended in adults with Williams syndrome or patients suspected of having supravalvular aortic stenosis.
(Level of Evidence: C-LD)
|
| 2. Coronary imaging is recommended in patients with Williams syndrome and supravalvular aortic stenosis presenting with symptoms of coronary ischemia. (Level of Evidence: C-LD)
|
Therapeutic Recommendations Recommendations for Supravalvular Aortic Stenosis
| Class I
|
| 1. Surgical repair is recommended for adults with supravalvular aortic stenosis (discrete or diffuse) and symptoms or decreased LV systolic function deemed secondary to aortic obstruction.(Level of Evidence: B-NR)
|
| 2.Coronary artery revascularization is recommended in symptomatic adults with supravalvular aortic stenosis and coronary ostial stenosis. (Level of Evidence: C-LD)
|
2008 ACC/AHA Guidelines for the Management of Adults With Congenital Heart Disease (DO NOT EDIT)[9]
Evaluation of the Unoperated Patient (DO NOT EDIT)[9]
Interventional and Surgical Therapy (DO NOT EDIT)[9]
Key Issues to Evaluate and Follow-Up (DO NOT EDIT) [9]
Reproduction (DO NOT EDIT)[9]
Coronary Anomalies Associated With Supravalvular Aortic Stenosis (DO NOT EDIT)[9]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 4.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM; et al. (2019). “2018 AHA/ACC Guideline 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 Clinical Practice Guidelines”. J Am Coll Cardiol. 73 (12): 1494–1563. doi:10.1016/j.jacc.2018.08.1028. PMID 30121240.
- ↑ 9.0 9.1 9.2 9.3 9.4 9.5 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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