Guideline sources The following summarized guidelines for the evaluation and management of bicuspid aortic valve (BAV) are prepared by our editorial team based on guidelines from the American Heart Association (AHA/ACC 2022; 2021), the European Society of Cardiology (ESC/EACTS 2021), the European Society of Cardiology (ESC 2014), and the Society of Thoracic Surgeons (STS 2013). 1 2 3 4 5 6 6 7 8 Definition BAV is a common congenital cardiac abnormality consisting of two cusps instead of three that is characterized by dilatation of the thoracic aorta. 6 Epidemiology The exact cause of BAV is unknown; however, genetic causes (Anderson syndrome, NOTCH1 mutation) have been implicated. 7 Disease course https://web.pathway.md/diseases/recRiaA3NnPI5Jmka 1/6 6/29/23, 3:17 AM Bicuspid aortic valve Pathway The fusion of the aortic cusps during valvulogenesis results in the BAV, which can cause clinical manifestations of severe aortic stenosis (symptoms of dyspnea, syncope, and chest pain), AR, aortic incompetence, aortopathy leading to aneurysm and dissection, infective endocarditis to asymptomatic disease. 6 Prognosis and risk of recurrence BAV in patients with definite infective endocarditis of the native aortic valve is associated with a 9% in-hospital mortality. 8 Guidelines 1. Screening and diagnosis Indications for screening: obtain TTE and cardiac MRI at the time of diagnosis to evaluate for BAV, aortic root and ascending aortic dilation, aortic coarctation, and other congenital heart defects in patients with Turner syndrome. B Screening of family relatives: As per ACC 2022 guidelines: Screen all first-degree relatives of patients with BAV and a dilated aortic root or ascending aorta by TTE to evaluate for the presence of BAV, dilation of the aortic root and ascending aorta, or both. Obtain a cardiac-gated CT or MRI of the thoracic aorta if the diameter and morphology of the aortic root, ascending aorta, or both cannot be assessed accurately or completely by TTE. B Consider screening all first-degree relatives of patients with BAV by TTE to evaluate for the presence of a BAV, dilation of the aortic root and ascending aorta, or both. C As per AHA 2021 guidelines, consider obtaining screening with TTE to look for the presence of a BAV or asymptomatic dilation of the aortic sinuses and ascending aorta in first-degree relatives of patients with a known BAV. C As per ESC 2014 guidelines, consider screening first-degree relatives of patients with BAV because of familial occurrence. C 2. Diagnostic investigations Transthoracic echocardiogram: As per ACC 2022 guidelines, obtain TTE to evaluate valve morphology and function, the diameter of the aortic root and ascending aorta, and to evaluate for aortic coarctation and other associated cardiovascular defects in patients with BAV. B As per AHA 2021 guidelines, obtain TTE in patients with a known BAV in order to: evaluate valve morphology measure the severity of aortic stenosis and AR https://web.pathway.md/diseases/recRiaA3NnPI5Jmka 2/6 6/29/23, 3:17 AM Bicuspid aortic valve Pathway assess the shape and diameter of the aortic sinuses and ascending aorta evaluate for the presence of aortic coarctation for prediction of clinical outcome determine the timing of intervention. B As per ESC 2014 guidelines, obtain an initial TTE in patients with known BAV to assess the diameters of the aortic root and ascending aorta. B Computed tomogrpahy/magnetic resonance imaging: As per ACC 2022 guidelines, obtain CT or MRI of the thoracic aorta in patients with BAV when the diameter and morphology of the aortic root, ascending aorta, or both cannot be assessed accurately or completely by TTE. B As per AHA 2021 guidelines, obtain cardiac MRA or CT angiography in patients with BAV if the morphology of the aortic sinuses, sinotubular junction, or ascending aorta cannot be assessed accurately or fully by echocardiography. B As per ESC 2014 guidelines: Obtain cardiac MRI or CT in patients with BAV when the morphology of the aortic root and the ascending aorta cannot be accurately assessed by transthoracic echocardiography. B Obtain cardiac CT or MRI to confirm the measurement in the case of aortic diameter > 5.0 cm or an increase > 3 cm/year measured by echocardiography. B Genetic testing: obtain genetic testing in patients with BAV and either heritable thoracic aortic disease or phenotypic features concerning for Loeys-Dietz syndrome. B 3. Medical management Beta-blockers: consider -blockers in patients with BAV and dilated aortic root > 4.0 cm. C 4. Nonpharmacologic interventions Exercise restrictions: advise avoidance of isometric exercise with a high static load (such as weightlifting) in patients with any elastopathy or BAV with dilated aortic root (> 4.0 cm). B 5. Surgical interventions Indications for aortic replacement or repair: As per ACC 2022 guidelines, perform surgery to replace the aortic root, ascending aorta, or both, in patients with BAV and a diameter of the aortic root, ascending aorta, or both, of 5.5 cm. B Show 4 more As per AHA 2021 guidelines, perform operative intervention to replace the aortic sinuses and/or the ascending aorta in asymptomatic or symptomatic patients with BAV and a diameter of the aortic sinuses or ascending aorta > 5.5 cm. B https://web.pathway.md/diseases/recRiaA3NnPI5Jmka 3/6 6/29/23, 3:17 AM Bicuspid aortic valve Pathway Show 6 more As per ESC 2021 guidelines, perform valve-sparing aortic root replacement in young patients with aortic root dilation, if performed at an experienced center and durable results are expected. B Show 2 more 6. Specific circumstances Pregnant patients: obtain aortic imaging (TTE, MRI or CT, or both as appropriate) before pregnancy to determine aortic diameters in patients with BAV with aortic dilation. B Show 2 more 7. Follow-up and surveillance Follow-up aortic imaging: As per ACC 2022 guidelines, obtain lifelong surveillance imaging of the aortic root and ascending aorta by TTE, CT, or MRI at an interval dependent on the aortic diameter and rate of growth in patients with BAV and a diameter of the aortic root, ascending aorta, or both, of 4.0 cm, B including patients undergone previous aortic valve repair or replacement. B As per AHA 2021 guidelines: Consider obtaining lifelong serial evaluation of the size and morphology of the aortic sinuses and ascending aorta by echocardiography, cardiac magnetic resonance or CT angiography in patients with BAV and a diameter of the aortic sinuses or ascending aorta > 4.0 cm, with an examination interval determined by the degree and rate of the progression of aortic dilation and by family history. C Consider obtaining continued lifelong serial interval imaging of the aorta in patients with BAV undergoing aortic valve replacement, if the diameter of the aortic sinuses or ascending aorta is 4.0 cm. C As per ESC 2014 guidelines: Obtain serial measurement of the aortic root and ascending aorta in every patient with BAV, with an interval depending on aortic size, increase in size and family history. B Obtain annual measurement of aortic diameter in the case of a diameter of the aortic root or the ascending aorta > 4.5 mm or an increase > 0.3 cm/year measured by echocardiography. B Pharmacotherapy after valve repair or replacement: consider initiating postoperative - blockers after bicuspid valve repair. B Show 2 more Clinical findings https://web.pathway.md/diseases/recRiaA3NnPI5Jmka 4/6 6/29/23, 3:17 AM Bicuspid aortic valve Pathway Patient demographics Symptoms Male sex Chest pain on exertion Fainting Past medical history Fatigue Lightheadedness Coarctation of aorta Palpitations Congenital heart disease Ehlers-danlos syndrome Cardiac exam Infective endocarditis Loeys-dietz syndrome Ejection click Marfan syndrome Midsystolic murmur Thoracic aortic aneurysm Thoracic aortic dissection Turner syndrome Williams syndrome Respiratory exam Dyspnea References 1. Eric M Isselbacher, Ourania Preventza, James Hamilton Black rd et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Nov 2. Open 2. Erbel R, Aboyans V, Boileau C et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology ESC . Eur Heart J. 2014 Nov 1;35 41 2873 926. Open 3. Catherine M Otto, Rick A Nishimura, Robert O Bonow et al. 2020 ACC/AHA guideline for the management of patients with valvular heart disease: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Thorac Cardiovasc Surg. 2021 Aug;162 2):e183-e353. Open 4. Alec Vahanian, Friedhelm Beyersdorf, Fabien Praz et al. 2021 ESC/EACTS Guidelines for the management of valvular heart disease: Developed by the Task Force for the management of valvular heart disease of the European Society of Cardiology ESC and the European Association for Cardio-Thoracic Surgery EACTS . Eur Heart J. 2021;ehab395. Open 5. Svensson LG, Adams DH, Bonow RO et al. Aortic valve and ascending aorta guidelines for management and quality measures. Ann Thorac Surg. 2013 Jun;95 6 Suppl):S1 66. Open 6. Ify Mordi, Nikolaos Tzemos. Bicuspid aortic valve disease: a comprehensive review. 2012;2012 196037.2012;2012 196037. Open 7. Stefanos Sakellaropoulos, Muhemin Mohammed, Stefano Svab et al. Causes, Diagnosis, Risk Stratification and Treatment of Bicuspid Aortic Valve Disease: An Updated Review. 2020 Aug;11 4 205 212.2020 Aug;11 4 205 212. Open https://web.pathway.md/diseases/recRiaA3NnPI5Jmka 5/6 6/29/23, 3:17 AM Bicuspid aortic valve Pathway 8. Gokhan Kahveci, Fatih Bayrak, Selcuk Pala et al. Impact of bicuspid aortic valve on complications and death in infective endocarditis of native aortic valves. 2009;36 2 111 6.2009;36 2 111 6. Open 9. 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. Circulation. 2016 Feb 16;133 7 680 6. Open https://web.pathway.md/diseases/recRiaA3NnPI5Jmka 6/6