Supravalvular aortic stenosis: Difference between revisions

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(/* Recommendations for Reproduction (DO NOT EDIT){{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a repor...)
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| [[File:Siren.gif|30px|link=Aortic stenosis resident survival guide]]|| <br> || <br>
| [[Aortic stenosis resident survival guide|'''Resident'''<br>'''Survival'''<br>'''Guide''']]
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{{Aortic stenosis}}
{{Aortic stenosis}}


{{CMG}}
{{CMG}} {{AE}} {{USAMA}}


==Overview==
==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.
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.<ref name="pmid27751339">{{cite journal| author=Idhrees M, Cherian VT, Menon S, Mathew T, Dharan BS, Jayakumar K| title=Bovine aortic arch with supravalvular aortic stenosis. | journal=Indian Heart J | year= 2016 | volume= 68 Suppl 2 | issue=  | pages= S83-S84 | pmid=27751339 | doi=10.1016/j.ihj.2015.07.007 | pmc=5067379 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27751339  }} </ref>


==Pathophysiology==
==Pathophysiology==
#Obstruction occurs just above the coronary ostium at the level of the sinotubular junction:
#Obstruction occurs just above the coronary ostium at the level of the sinotubular junction:<ref name="pmid26782665">{{cite journal| author=Kim do Y, Kim HW| title=Atypical initial presentation of Takayasu arteritis as isolated supra-valvular aortic stenosis. | journal=J Cardiothorac Surg | year= 2016 | volume= 11 | issue=  | pages= 15 | pmid=26782665 | doi=10.1186/s13019-016-0408-0 | pmc=4717593 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26782665  }} </ref><ref name="pmid27484000">{{cite journal| author=Galoin-Bertail C, Capderou A, Belli E, Houyel L| title=The mid-term outcome of primary open valvotomy for critical aortic stenosis in early infancy - a retrospective single center study over 18 years. | journal=J Cardiothorac Surg | year= 2016 | volume= 11 | issue= 1 | pages= 116 | pmid=27484000 | doi=10.1186/s13019-016-0509-9 | pmc=4970304 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27484000  }} </ref><ref name="pmid27866049">{{cite journal| author=Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB| title=Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. | journal=Eur J Med Genet | year= 2016 | volume=  | issue=  | pages=  | pmid=27866049 | doi=10.1016/j.ejmg.2016.11.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27866049  }} </ref>
 
#*Hourglass type: single discrete narrowing or long tubular hypoplasia (the most common)
#*Hourglass type: single discrete narrowing or long tubular hypoplasia (the most common)
#*Hypoplastic type: uniform narrowing of the ascending aorta.   
#*Hypoplastic type: uniform narrowing of the ascending aorta.   
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#Because of high perfusion pressure of the coronary arteries there is premature coronary artery disease.
#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.
#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.<ref name="pmid26858344">{{cite journal| author=Misra A, Sheikh AQ, Kumar A, Luo J, Zhang J, Hinton RB et al.| title=Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. | journal=J Exp Med | year= 2016 | volume= 213 | issue= 3 | pages= 451-63 | pmid=26858344 | doi=10.1084/jem.20150688 | pmc=4813675 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26858344  }} </ref>
# ELN mutation can also cause supra valvular aortic stenosis. <ref name="pmid27866049">{{cite journal| author=Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB| title=Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. | journal=Eur J Med Genet | year= 2016 | volume=  | issue=  | pages=  | pmid=27866049 | doi=10.1016/j.ejmg.2016.11.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27866049  }} </ref>
===Associated conditions===
===Associated conditions===
* Frequently accompanied by [[aortic regurgiation]], due to jet on aortic valve.
The following conditions can be associated with supra valvular aortic stenosis:<ref name="pmid27696186">{{cite journal| author=Royston R, Howlin P, Waite J, Oliver C| title=Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis. | journal=J Autism Dev Disord | year= 2016 | volume=  | issue=  | pages=  | pmid=27696186 | doi=10.1007/s10803-016-2909-z | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27696186  }} </ref>
* Frequently accompanied by [[aortic regurgitation]], due to jet on aortic valve.
* Associated with elfin facies, high calcium.
* Associated with elfin facies, high calcium.


==Genetics==
===Genetics===
#One third of cases are transmitted as an [[autosomal dominant]] trait.
*One third of the cases are transmitted as an [[autosomal dominant]] trait.<ref name="pmid8364568">{{cite journal| author=Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ et al.| title=Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. | journal=Hum Mol Genet | year= 1993 | volume= 2 | issue= 7 | pages= 869-73 | pmid=8364568 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8364568  }} </ref>


==Diagnosis==
==Diagnosis and Treatment==
===Physical Examination===
===Physical Examination===
#50% have a characteristically greater pulse and systolic blood pressure in the right carotid and brachial arteries than in the left.
*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.
*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.
*No ejection click is present, no diastolic murmur.


===Echocardiography===
===Echocardiography===
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{{#ev:youtube|9qdCgeF06CI}}
{{#ev:youtube|9qdCgeF06CI}}


==Treatment==
== 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<ref name="pmid30121240">{{cite journal| author=Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM | display-authors=etal| title=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. | journal=J Am Coll Cardiol | year= 2019 | volume= 73 | issue= 12 | pages= 1494-1563 | pmid=30121240 | doi=10.1016/j.jacc.2018.08.1028 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30121240  }}</ref> ==
{{#ev:youtube|vrVFoq1WgMg}}
 
=== Diagnostic Recommendations Recommendations for Supravalvular Aortic Stenosis ===
{| class="wikitable"
|-
| colspan="1" style="text-align:center; background:LightGreen" |[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]]
|-
| bgcolor="LightGreen" |'''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)''
|-
| bgcolor="LightGreen" |'''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="wikitable"
|-
| colspan="1" style="text-align:center; background:LightGreen" |[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]]
|-
| bgcolor="LightGreen" |'''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)''
|-
| bgcolor="LightGreen" |'''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)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ==
==2008 ACC/AHA Guidelines for the Management of Adults With Congenital Heart Disease (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ==
=== Recommendations for Evaluation of the Unoperated Patient (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ===
=== Evaluation of the Unoperated Patient (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ===
{|class="wikitable"
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|-
|-
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| bgcolor="LightGreen"|<nowiki>"</nowiki>'''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. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''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. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|-
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''2.''' Assessment of anatomy and flow in the proximal [[renal arteries]] is recommended in ACHD patients with Supra AS.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''2.''' Assessment of anatomy and flow in the proximal [[renal arteries]] is recommended in ACHD patients with Supra AS. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|-
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''3.''' Assessment of [[systolic]] and [[diastolic]] [[ventricular function]] is recommended in ACHD patients with SupraAS.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''3.''' Assessment of [[systolic]] and [[diastolic]] [[ventricular function]] is recommended in ACHD patients with SupraAS. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|-
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''4.''' Assessment of aortic and [[mitral valve]] anatomy and function is recommended in ACHD patients with SupraAS. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''4.''' Assessment of aortic and [[mitral valve]] anatomy and function is recommended in ACHD patients with SupraAS. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
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|}
|}


=== Recommendations for Interventional and Surgical Therapy (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ===
=== Interventional and Surgical Therapy (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ===
{|class="wikitable"
{|class="wikitable"
|-
|-
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| bgcolor="LightGreen"|<nowiki>"</nowiki>'''a.''' Symptoms (ie, [[angina]], [[dyspnea]], or [[syncope]]). ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''a.''' Symptoms (ie, [[angina]], [[dyspnea]], or [[syncope]]). ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>"</nowiki>
|-
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''b.''' [[LV hypertrophy]].''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''b.''' [[LV hypertrophy]]. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|-
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''c.''' Desire for greater degrees of exercise or a planned [[pregnancy]]. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])'' <nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''c.''' Desire for greater degrees of exercise or a planned [[pregnancy]]. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])'' <nowiki>"</nowiki>
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|}


=== Recommendations for Key Issues to Evaluate and Follow-Up (DO NOT EDIT) <ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref>===
=== Key Issues to Evaluate and Follow-Up (DO NOT EDIT) <ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref>===


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=== Recommendations for Reproduction (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ===
=== Reproduction (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref> ===
{|class="wikitable"
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| bgcolor="LightGreen"|<nowiki>"</nowiki>'''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. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''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. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|-
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''2.''' Patients with SupraAS and significant obstruction, coronary involvement, or aortic disease should be counseled against [[pregnancy]]. ''(([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])'' <nowiki>"</nowiki>
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''2.''' Patients with SupraAS and significant obstruction, coronary involvement, or aortic disease should be counseled against [[pregnancy]]. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])'' <nowiki>"</nowiki>
|}
 
=== Coronary Anomalies Associated With Supravalvular Aortic Stenosis (DO NOT EDIT)<ref name="pmid19038677">{{cite journal| author=Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA et al.| title=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. | journal=J Am Coll Cardiol | year= 2008 | volume= 52 | issue= 23 | pages= e1-121 | pmid=19038677 | doi=10.1016/j.jacc.2008.10.001 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19038677  }} </ref>===
{|class="wikitable"
|-
| colspan="1" style="text-align:center; background:LightGreen"|[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]]
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''1.''' Adults with a history or presence of SupraAS should be screened every 1 or 2 years for [[myocardial ischemia]]. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|-
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''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. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
|}
|}


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{{reflist|2}}
{{reflist|2}}


[[Category: Cardiology]]
[[Category:Disease]]
[[Category:Valvular heart disease]]
[[Category:Cardiology]]
[[Category: Up-To-Date cardiology]]
[[Category: Up-To-Date]]
[[Category:Congenital heart disease]]
[[Category:Mature chapter]]
[[Category:Overview complete]]
[[Category:Template complete]]


[[Category: Disease]]
{{WH}}
{{WH}}
{{WS}}
{{WS}}

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Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Aortic Stenosis from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Cardiac Stress Test

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography

Cardiac Catheterization

Aortic Valve Area

Aortic Valve Area Calculation

Treatment

General Approach

Medical Therapy

Surgery

Percutaneous Aortic Balloon Valvotomy (PABV) or Aortic Valvuloplasty

Transcatheter Aortic Valve Replacement (TAVR)

TAVR vs SAVR
Critical Pathway
Patient Selection
Imaging
Evaluation
Valve Types
TAVR Procedure
Post TAVR management
AHA/ACC Guideline Recommendations

Follow Up

Prevention

Precautions and Prophylaxis

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Supravalvular aortic stenosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

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American Roentgen Ray Society Images of Supravalvular aortic stenosis

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MRI

Ongoing Trials at Clinical Trials.gov

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Supravalvular aortic stenosis in the news

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Risk calculators and risk factors for Supravalvular aortic stenosis

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.
  2. Associated lesion is peripheral pulmonary arterial stenosis
  3. Because of high perfusion pressure of the coronary arteries there is premature coronary artery disease.
  4. Coronary arteries may be obstructed by an adjacent stenotic ring.
  5. A high concentration of Integrin B3 is thought to be a cause and its inhibition has helped with the treatment.[5]
  6. 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]

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)[9]

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) [9]

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)[9]

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)[9]

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. ↑ 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. ↑ 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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