Bicuspid aortic stenosis physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Varun Kumar, M.B.B.S. [2]; Usama Talib, BSc, MD [3]

Overview

Bicuspid aortic valve is often undiagnosed until later in life when the person develops symptomatic aortic stenosis. Aortic stenosis occurs in this condition usually in patients in their 40s or 50s, an average of 10 years earlier than can occur in people with congenitally normal aortic valves. On auscultation, you will hear a mid systolic murmur and a slowed carotid upstroke.[1]

Physical Examination

Heart

  • Unlike acquired aortic stenosis (AS), the contour of the carotid pulse is not a good predictor of severity in congenital AS because it is so variable.

Auscultation

The auscultation of the heart of a patient with aortic stenosis yields the following findings.[2][3]

Heart Sounds
  • Paradoxical splitting of second heart sound, S2 is present in severe aortic stenosis.
  • Because the valve is not calcified early on in the case of a fused valve, an ejection click may be present unlike acquired AS.
  • As the disease progresses, the ejection sound and the intensity of the aortic component (A2) of the second heart sound (S2) decrease.
  • Patients often have an S4.
Murmurs
  • There is a mid systolic murmur from birth (occurs later in life in acquired AS). It is heard best in aortic area (2nd intercostal space along right sternal border).
  • In presence of aortic insufficieny, a diastolic murmur may be heard. Various maneuvers such as isometric handgrip, having patients lean forward in a seated position helps in hearing the murmur better.

Other Physical Features Related to Associated Syndromes

    • Short stature female
    • Webbed neck
    • Low hairline
    • Broad chest with wide spaced nipples

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[6]

Diagnostic Recommendations for Congenital Valvular Aortic Stenosis

Class I
1. Adults with bicuspid aortic valve should be evaluated for coarctation of the aorta by clinical examination and imaging studies.(Level of Evidence: B-NR)
Class IIa
1.It is reasonable to screen first-degree relatives of patients with bicuspid aortic valve or unicuspid aortic valve with echocardiography for valve disease and aortopathy. (Level of Evidence: B-NR)
Class IIb
1.In adults with bicuspid aortic valve stenosis and a noncalcified valve with no more than mild AR meeting indications for intervention per GDMT,S4.2.4-5 it may be reasonable to treat with balloon valvuloplasty. (Level of Evidence: B-NR)

References

  1. Bonow RO, Carabello BA, Chatterjee K, de Leon AC, Faxon DP, Freed MD; et al. (2008). "2008 Focused update incorporated into the 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): endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". Circulation. 118 (15): e523–661. doi:10.1161/CIRCULATIONAHA.108.190748. PMID 18820172.
  2. Ilias Maglogiannis, Euripidis Loukis, Elias Zafiropoulos & Antonis Stasis (2009). "Support Vectors Machine-based identification of heart valve diseases using heart sounds". Computer methods and programs in biomedicine. 95 (1): 47–61. doi:10.1016/j.cmpb.2009.01.003. PMID 19269056. Unknown parameter |month= ignored (help)
  3. Chance M. Witt, William R. Miranda & Darrell B. Newman (2016). "The maverick heart sound". Heart (British Cardiac Society). 102 (13): 1008. doi:10.1136/heartjnl-2015-309131. PMID 26919867. Unknown parameter |month= ignored (help)
  4. Yiğit H, Ergün E (2016). "Elongation of transvers aortic arc; not specific for Turner Syndrome". Clin Anat. doi:10.1002/ca.22816. PMID 27935115.
  5. 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.
  6. 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.

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