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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK534214_"><span class="title" itemprop="name">Bicuspid Aortic Valve</span></h1><p class="contrib-group"><h4>Authors</h4><span itemprop="author">Ateeq Mubarik</span><sup>1</sup>; <span itemprop="author">Saurabh Sharma</span><sup>2</sup>; <span itemprop="author">Mark A. Law</span><sup>3</sup>.</p><h4>Affiliations</h4><div class="affiliation"><sup>1</sup> Oak hill hospital</div><div class="affiliation"><sup>2</sup> Guthrie Robert Packer Hospital</div><div class="affiliation"><sup>3</sup> Childrens of AL, Un of AL at Birmingham</div><p class="small">Last Update: <span itemprop="dateModified">January 21, 2023</span>.</p></div><div class="body-content whole_rhythm" itemprop="text"><div id="article-36524.s1"><h2 id="_article-36524_s1_">Continuing Education Activity</h2><p>A bicuspid aortic valve is a common congenital heart defect in which the bicuspid aortic valve contains two cusps instead of the usual three. This leads to degenerative changes of the valve and is associated with dilatation of the aorta. This activity outlines the evaluation and management of bicuspid aortic valve and reviews the role of the interprofessional team in improving care for patients with this condition.</p><p>
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<b>Objectives:</b>
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<ul><li class="half_rhythm"><div>Outline the epidemiology of bicuspid aortic valve.</div></li><li class="half_rhythm"><div>Describe the presentation of patients with bicuspid aortic valve.</div></li><li class="half_rhythm"><div>Summarize the use of electrocardiogram and echocardiogram in the evaluation of the bicuspid aortic valve.</div></li><li class="half_rhythm"><div>Explain the importance of collaboration and communication among the interprofessional team to enhance care coordination for patients affected by bicuspid aortic valve.</div></li></ul>
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</p></div><div id="article-36524.s2"><h2 id="_article-36524_s2_">Introduction</h2><p>A bicuspid aortic valve is the most common congenital heart defect, occurring in approximately 1% of the general population (men to women, 2 to 1). The bicuspid aortic valve leads to degenerative changes of the aortic valve and is associated with dilation of the ascending aorta.  </p></div><div id="article-36524.s3"><h2 id="_article-36524_s3_">Etiology</h2><p>The bicuspid aortic valve can be sporadic or familial. Evidence supports that mode of inheritance for a familial bicuspid aortic valve is variable but it could be autosomal dominant.<a class="bk_pop" href="#article-36524.r1">[1]</a> Almost 20% to 30% of other family members have a bicuspid aortic valve. The exact mechanism of the bicuspid aortic valve is still unknown. There are different theories regarding its pathogenesis. One theory suggests that abnormal blood flow across the valve during a development phase results in incomplete separation of the valve.<a class="bk_pop" href="#article-36524.r2">[2]</a> Kappetein AP et al also investigated another theory according to which abnormal neural crest migration results in the fusion of valve cushions.<a class="bk_pop" href="#article-36524.r3">[3]</a> Some suggest the absence of endothelial nitric oxide synthetase causes bicuspid aortic valve.<a class="bk_pop" href="#article-36524.r4">[4]</a> </p></div><div id="article-36524.s4"><h2 id="_article-36524_s4_">Epidemiology</h2><p>The bicuspid aortic valve occurs in 1% to 2% of the general population. Its prevalence has been increased after the advent of echocardiography. Fifty to 75% of patients with coarctation of the aorta have a bicuspid aortic valve.<a class="bk_pop" href="#article-36524.r5">[5]</a> It's also prevalent in other syndromes like Turner syndrome (30% of cases).<a class="bk_pop" href="#article-36524.r6">[6]</a> Similarly, 30% of cases of William syndrome and ventricular septal defect are also associated with it. It is also prevalent in some rare syndromes like Shone syndrome.<a class="bk_pop" href="#article-36524.r7">[7]</a></p></div><div id="article-36524.s5"><h2 id="_article-36524_s5_">Pathophysiology</h2><p>The normal aortic valve consists of 3 leaflet cusps:</p><ol><li class="half_rhythm"><div>Right coronary cusp</div></li><li class="half_rhythm"><div>Left coronary cusp</div></li><li class="half_rhythm"><div>Non-coronary cusp</div></li></ol><p>They are named as such as they overlap on the sinuses from where the coronary artery arises with the same name.<a class="bk_pop" href="#article-36524.r8">[8]</a> The bicuspid aortic valve comprises two cusps and a majority of the time it is unequal, rarely they are symmetrical which is a pure bicuspid with no raphe. Mostly, it is due to the fusion of the right and left coronary cusp, and this anomaly is associated with coarctation of the aorta. It could be due to the fusion of the non-coronary cusp and right coronary cusp which is associated with valvular abnormalities like aortic stenosis and aortic regurgitation.<a class="bk_pop" href="#article-36524.r9">[9]</a> Valvular abnormality mainly depends on the presence or absence of redundant tissue. Bicuspid valves in which there is predominantly no redundant tissue develop stenosis; in contrast, in the presence of redundant tissue, the predominant gained pathology is valvular incompetence.<a class="bk_pop" href="#article-36524.r10">[10]</a></p></div><div id="article-36524.s6"><h2 id="_article-36524_s6_">History and Physical</h2><p>The presentation of the bicuspid valve is variable and varies depending on the degree of stenosis and/or insufficiency of the valve. The most benign pediatric presentation is without symptoms or features of valve dysfunction.  In this case, the physical examination may show a low-pitched systolic ejection murmur and ejection click. The young population often has an early ejection sound followed by a systolic ejection murmur. The ejection sound depends on the mobility of the valve so as the valve cusps become more immobile the ejection sounds diminish. The examination also depends on the severity of the valvular insufficiency. In mild to moderate aortic regurgitation ejection sound is there but in severe aortic regurgitation, the ejection sound is usually absent. </p></div><div id="article-36524.s7"><h2 id="_article-36524_s7_">Evaluation</h2><p>The evaluation of a bicuspid valve routinely includes an electrocardiogram and echocardiogram. If there is severe stenosis, the electrocardiogram can show left ventricular hypertrophy with increased voltages in the lateral precordial lead and potentially T-wave inversion, consistent with a strain pattern. The echocardiogram is the most common way to understand the features and function of a bicuspid aortic valve. Two-dimensional echocardiography will demonstrate where the fusion of the valve leaflets occurs, systolic doming (can not visualize when extensive calcification is present), an eccentric valve closure in the parasternal long-axis views, the demonstration of a single commissural line in diastole with the characteristic 2 cusps and 2 commissures, leaflet redundancy, presence of a raphe, eccentric valve closure in the parasternal short-axis views and can fairly reliable measurements of the ascending aorta.<a class="bk_pop" href="#article-36524.r11">[11]</a><a class="bk_pop" href="#article-36524.r12">[12]</a>  </p><p>Doppler echocardiography can provide information on the degree of stenosis with a peak and mean gradient with the mean gradient correlating with invasive catheter measurements. Furthermore, Doppler measurements can be made to demonstrate the degree of insufficiency of the valve.  Rarely invasive cardiac catheter measurements are made for diagnostic purposes only but are usually reserved when an intervention is planned. Computed tomography scans and magnetic resonance imaging imaging can be obtained to help make a more accurate measurement of the ascending aorta.  Two-dimensional echocardiography has a sensitivity of 78%, a specificity of 96%, and a predictive accuracy of 93%.<a class="bk_pop" href="#article-36524.r13">[13]</a></p></div><div id="article-36524.s8"><h2 id="_article-36524_s8_">Treatment / Management</h2><p>The well-functioning bicuspid aortic valve requires periodic outpatient follow-up. Families should be advised that the bicuspid aortic valve predictably will degenerate during one's lifetime. So far there is no medical intervention that can slow the progression of the bicuspid aortic valve into aortic stenosis or aortic regurgitation. All first-degree relatives of bicuspid aortic valve patients with aortopathy should be screened. Otherwise, there are no such recommendations to screen all family members.<a class="bk_pop" href="#article-36524.r14">[14]</a> One-time transthoracic echocardiography is required in a patient known bicuspid aortic valve to evaluate its morphology, severity of aortic stenosis or aortic regurgitation if they are present, and the size of aortic sinuses and ascending aorta.<a class="bk_pop" href="#article-36524.r15">[15]</a> A bicuspid aortic valve with an ascending aorta diameter of 4 cm needs periodic surveillance through echocardiography (if not visualized by it then aortic magnetic resonance angiography or computed tomography scan angiography). If the size is over 4.5 cm, then annually echocardiography is recommended by the American Heart Association. </p><p>Surgical intervention indications in a pediatric population;</p><ul><li class="half_rhythm"><div>Peak-to-peak gradients over 50 mm Hg with electrocardiogram changes (ST- or T-wave changes) at rest or with exercise or who are interested in taking part in athletics</div></li><li class="half_rhythm"><div>Asymptomatic children with peak-to-peak gradients greater than 60 mm Hg</div></li></ul><p>The gold standard surgical intervention in the pediatric population is valvuloplasty. In the bicuspid aortic valve population age greater than 18 years the indications of aortic valve replacement are the same as a tricuspid aortic valve but the bicuspid aortic valve population receiving aortic valve replacement is much younger so the decision of mechanical or bioprosthetic is a little challenging. Thirty percent of bicuspid aortic valve patients need aortic sinuses or ascending aorta surgery along with aortic valve replacement.<a class="bk_pop" href="#article-36524.r16">[16]</a> Current American Heart Association guidelines recommend that if for any reason surgeon performing aortic valve replacement and the size of the root of the aorta is greater than 4.5 cm then replace the aortic root as well in the same surgery.<a class="bk_pop" href="#article-36524.r17">[17]</a></p></div><div id="article-36524.s9"><h2 id="_article-36524_s9_">Differential Diagnosis</h2><p>The differential diagnosis for a bicuspid aortic valve includes the following:</p><ul><li class="half_rhythm"><div>Coarctation of the aorta</div></li><li class="half_rhythm"><div>Interrupted aortic arch</div></li><li class="half_rhythm"><div>Pediatric aortic arch insufficiency</div></li><li class="half_rhythm"><div>Pediatric Ebstein anomaly</div></li><li class="half_rhythm"><div>Pediatric mitral valve prolapse</div></li><li class="half_rhythm"><div>Pediatric rheumatic heart disease</div></li><li class="half_rhythm"><div>Pediatric sub valvar aortic stenosis</div></li><li class="half_rhythm"><div>Turner syndrome</div></li><li class="half_rhythm"><div>Valvar pulmonary stenosis</div></li><li class="half_rhythm"><div>Williams syndrome</div></li></ul></div><div id="article-36524.s10"><h2 id="_article-36524_s10_">Complications</h2><p>The bicuspid aortic valve can lead to significant valvular dysfunction which could be aortic stenosis or aortic regurgitation. The risk of infective endocarditis is high among populations with a bicuspid valve. The bicuspid aortic valve is also associated with:</p><ul><li class="half_rhythm"><div>Coarctation of aorta</div></li><li class="half_rhythm"><div>Ascending aortic dilatation 40% to 60%</div></li><li class="half_rhythm"><div>Aortic aneurysm </div></li></ul></div><div id="article-36524.s11"><h2 id="_article-36524_s11_">Enhancing Healthcare Team Outcomes </h2><p>The bicuspid aortic valve is commonly encountered in clinical practice by the primary care provider, internist, and nurse practitioner. The key is to refer the patient to the cardiologist to determine the severity of the valve disorder, the presence of symptoms, and the age of the patient. The treatment options in children include balloon valvoplasty or observation. In adults, the only treatment for symptomatic patients is valve replacement. The prognosis for most patients after valve replacement is good. After valvoplasty, recurrence of symptoms is common.<a class="bk_pop" href="#article-36524.r18">[18]</a></p></div><div id="article-36524.s12"><h2 id="_article-36524_s12_">Review Questions</h2><ul><li class="half_rhythm"><div>
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</div></li></ul></div><div id="article-36524.s13"><h2 id="_article-36524_s13_">References</h2><dl class="temp-labeled-list"><dt>1.</dt><dd><div class="bk_ref" id="article-36524.r1">Panayotova R, Macnab A, Waterworth PD. A pilot project of familial screening in patients with bicuspid aortic valve disease. <span><span class="ref-journal">J Heart Valve Dis. </span>2013 Mar;<span class="ref-vol">22</span>(2):150-5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23798202" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23798202</span></a>]</div></dd><dt>2.</dt><dd><div class="bk_ref" id="article-36524.r2">Sans-Coma V, Fernández B, Durán AC, Thiene G, Arqué JM, Muñoz-Chápuli R, Cardo M. Fusion of valve cushions as a key factor in the formation of congenital bicuspid aortic valves in Syrian hamsters. <span><span class="ref-journal">Anat Rec. </span>1996 Apr;<span class="ref-vol">244</span>(4):490-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8694284" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8694284</span></a>]</div></dd><dt>3.</dt><dd><div class="bk_ref" id="article-36524.r3">Kappetein AP, Gittenberger-de Groot AC, Zwinderman AH, Rohmer J, Poelmann RE, Huysmans HA. The neural crest as a possible pathogenetic factor in coarctation of the aorta and bicuspid aortic valve. <span><span class="ref-journal">J Thorac Cardiovasc Surg. </span>1991 Dec;<span class="ref-vol">102</span>(6):830-6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/1960986" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1960986</span></a>]</div></dd><dt>4.</dt><dd><div class="bk_ref" id="article-36524.r4">Lee TC, Zhao YD, Courtman DW, Stewart DJ. 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Aortic valve and aortic arch pathology after coarctation repair. <span><span class="ref-journal">Heart. </span>2003 Sep;<span class="ref-vol">89</span>(9):1074-7.</span> [<a href="/pmc/articles/PMC1767804/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1767804</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/12923033" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12923033</span></a>]</div></dd><dt>6.</dt><dd><div class="bk_ref" id="article-36524.r6">Sybert VP. Cardiovascular malformations and complications in Turner syndrome. <span><span class="ref-journal">Pediatrics. </span>1998 Jan;<span class="ref-vol">101</span>(1):E11.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9417175" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9417175</span></a>]</div></dd><dt>7.</dt><dd><div class="bk_ref" id="article-36524.r7">Bolling SF, Iannettoni MD, Dick M, Rosenthal A, Bove EL. Shone's anomaly: operative results and late outcome. <span><span class="ref-journal">Ann Thorac Surg. </span>1990 Jun;<span class="ref-vol">49</span>(6):887-93.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2369186" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2369186</span></a>]</div></dd><dt>8.</dt><dd><div class="bk_ref" id="article-36524.r8">Harris C, Croce B, Munkholm-Larsen S. Bicuspid aortic valve. <span><span class="ref-journal">Ann Cardiothorac Surg. </span>2017 Nov;<span class="ref-vol">6</span>(6):721.</span> [<a href="/pmc/articles/PMC5721100/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5721100</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29270387" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29270387</span></a>]</div></dd><dt>9.</dt><dd><div class="bk_ref" id="article-36524.r9">Siu SC, Silversides CK. Bicuspid aortic valve disease. <span><span class="ref-journal">J Am Coll Cardiol. </span>2010 Jun 22;<span class="ref-vol">55</span>(25):2789-800.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20579534" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20579534</span></a>]</div></dd><dt>10.</dt><dd><div class="bk_ref" id="article-36524.r10">Pomerance A. Pathogenesis of aortic stenosis and its relation to age. <span><span class="ref-journal">Br Heart J. </span>1972 Jun;<span class="ref-vol">34</span>(6):569-74.</span> [<a href="/pmc/articles/PMC458502/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC458502</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/5040256" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 5040256</span></a>]</div></dd><dt>11.</dt><dd><div class="bk_ref" id="article-36524.r11">Fowles RE, Martin RP, Abrams JM, Schapira JN, French JW, Popp RL. Two-dimensional echocardiographic features of bicuspid aortic valve. <span><span class="ref-journal">Chest. </span>1979 Apr;<span class="ref-vol">75</span>(4):434-40.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/446130" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 446130</span></a>]</div></dd><dt>12.</dt><dd><div class="bk_ref" id="article-36524.r12">Nanda NC, Gramiak R, Manning J, Mahoney EB, Lipchik EO, DeWeese JA. Echocardiographic recognition of the congenital bicuspid aortic valve. <span><span class="ref-journal">Circulation. </span>1974 May;<span class="ref-vol">49</span>(5):870-5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/4828607" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 4828607</span></a>]</div></dd><dt>13.</dt><dd><div class="bk_ref" id="article-36524.r13">Brandenburg RO, Tajik AJ, Edwards WD, Reeder GS, Shub C, Seward JB. Accuracy of 2-dimensional echocardiographic diagnosis of congenitally bicuspid aortic valve: echocardiographic-anatomic correlation in 115 patients. <span><span class="ref-journal">Am J Cardiol. </span>1983 May 15;<span class="ref-vol">51</span>(9):1469-73.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/6846179" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 6846179</span></a>]</div></dd><dt>14.</dt><dd><div class="bk_ref" id="article-36524.r14">Kang JW, Song HG, Yang DH, Baek S, Kim DH, Song JM, Kang DH, Lim TH, Song JK. Association between bicuspid aortic valve phenotype and patterns of valvular dysfunction and bicuspid aortopathy: comprehensive evaluation using MDCT and echocardiography. <span><span class="ref-journal">JACC Cardiovasc Imaging. </span>2013 Feb;<span class="ref-vol">6</span>(2):150-61.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23489528" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23489528</span></a>]</div></dd><dt>15.</dt><dd><div class="bk_ref" id="article-36524.r15">Pachulski RT, Weinberg AL, Chan KL. Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. <span><span class="ref-journal">Am J Cardiol. </span>1991 Apr 01;<span class="ref-vol">67</span>(8):781-2.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2006634" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2006634</span></a>]</div></dd><dt>16.</dt><dd><div class="bk_ref" id="article-36524.r16">Tzemos N, Therrien J, Yip J, Thanassoulis G, Tremblay S, Jamorski MT, Webb GD, Siu SC. 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Population-based treated prevalence, risk factors, and outcomes of bicuspid aortic valve in a pediatric Medicaid cohort. <span><span class="ref-journal">Ann Pediatr Cardiol. </span>2018 May-Aug;<span class="ref-vol">11</span>(2):119-124.</span> [<a href="/pmc/articles/PMC5963224/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5963224</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29922007" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29922007</span></a>]</div></dd></dl></div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_top_margin">
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<b>Disclosure: </b>Ateeq Mubarik declares no relevant financial relationships with ineligible companies.</p></div></dd><dt></dt><dd><div><p class="no_top_margin">
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<b>Disclosure: </b>Saurabh Sharma declares no relevant financial relationships with ineligible companies.</p></div></dd><dt></dt><dd><div><p class="no_top_margin">
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<b>Disclosure: </b>Mark Law declares no relevant financial relationships with ineligible companies.</p></div></dd></dl></div></div></div>
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