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bicuspid aortic valve

Etiology: - may occur with other anomalies - coarctation of the aorta - sinuses of Valsalva aneurysm - patent ductus arteriosus - aortic aneurysm & aortic dissection Epidemiology: - most common congenital heart defect [1] - 1-2% of adults, more common in men [5] Genetics: - MIB1 variants are associated with non-syndromic bicuspid aortic valve [8] - MINDBOMB1 homologue MIB1 is an E3-ubiquitin ligase essential for NOTCH-signaling during heart development Clinical manifestations: 1) early systolic ejection click* heard best at apex [5] - presentation in adolescence or young adulthood common [1] 2) low grade systolic murmur of minimal/mild aortic stenosis - heard best at right upper sternal border - does not vary with valsalva or respiration [5] 3) diastolic murmur of aortic regurgitation 4) normal peripheral pulses 5) physiologically split S2 6) many patients are asymptomatic 7) pregnancy may bring out murmurs not previously heard [1] * contrast with click of mitral valve prolapse which is not an ejection click [1] Special laboratory: - echocardiogram [1] - valve morphology & aortic root dimensions - reassessment if aortic root or ascending aorta diameter is > 4.0 cm [1] - every 3-5 years [1] - annually if aortic root or ascending aorta diameter is > 4.5 cm [1] - new or changing symptoms & pregnancy are indications for earlier echocardiography [1] - echocardiography of 1st degree relatives - screen for bicuspid aortic valve, aortic aneurysm [1] Radiology: - CT angiography or magnetic resonance angiography if - aortic root & ascending aorta not adequately visualized with echocardiography [1] - hypertension (suggests coarctation of aorta) [1] - all patients bicuspid aortic valve [1] Complications: - aortic stenosis (2nd most common cause) - aortic regurgitation (2nd most common cause) - severe aortic valve disease in 5th or 6th decage of life common [1] - cystic medial degeneration with dilatation of ascending aorta - type A ascending aortic dissection Management: - if aortic regurgitation, LV dilation or LV systolic dysfunction, aortic valve surgery indicated [1] - most patients with a biscupid aortic valve will need surgical intervention for a aortic stenosis or aortic insufficiency or aortic root dilation over a lifetime [1] - similar 1-year outcomes with TAVR in bicuspid & tricuspid aortic valves [7] - patients requiring aortic valve replacement may also need aortic root surgery [1] - surgical repair* indicated when aortic root diameter - > 5.5 cm - > 5.0 cm with additional risk factor for aortic dissection - > 4.5 with severe aortic stenosis or aortic regurgitation [1] * endovascular repair not recommended unless prohibitive surgical risk

Interactions

disease interactions

Related

aortic valve

General

congenital heart disease; congenital cyanotic heart disease valvular heart disease

Database Correlations

OMIM 109730

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018, 2022. - Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  2. Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol. 2010 Jun 22;55(25):2789-800. PMID: 20579534
  3. Tzemos N, Therrien J, Yip J et al Outcomes in adults with bicuspid aortic valves. JAMA. 2008 Sep 17;300(11):1317-25. PMID: 18799444
  4. Mordi I, Tzemos N. Bicuspid aortic valve disease: a comprehensive review. Cardiol Res Pract. 2012;2012:196037 PMID: 22685681
  5. NEJM Knowledge+ Question of the week. July 12, 2016 http://knowledgeplus.nejm.org/question-of-week/144/
  6. Hiratzka LF, Creager MA, Isselbacher EM et al Surgery for Aortic Dilatation in Patients With Bicuspid Aortic Valves: A Statement of Clarification From the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2016 Feb 16;67(6):724-731. Epub 2015 Dec 4. PMID: 26658475 Free Article
  7. Makkar RR, Yoon SH, Leon MB et al. Association between transcatheter aortic valve replacement for bicuspid vs tricuspid aortic stenosis and mortality or stroke. JAMA 2019 Jun 11; 321:2193. PMID: 31184741 - Barker CM, Reardon MJ. Bicuspid aortic valve stenosis: Is there a role for TAVR? JAMA 2019 Jun 11; 321:2170. PMID: 31184722
  8. Tessler I, Albuisson J, Pineiro-Sabaris R et al Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve JAMA Cardiol. Published online July 5, 2023 PMID: 37405741 PMCID: PMC10323766 (available on 2024-07-05) https://jamanetwork.com/journals/jamacardiology/fullarticle/2806407