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 Table of Contents  
INTERESTING CASE REPORT
Year : 2019  |  Volume : 3  |  Issue : 3  |  Page : 180-182

Unicuspid Unicommissural Aortic Valve in Young Adult: Rare Congenital Abnormality Presenting as Symptomatic and Severe Aortic Stenosis


Department of Non Invasive Cardiology, Max Super Specialty Hospital, New Delhi, India

Date of Submission14-Dec-2018
Date of Decision08-Jan-2019
Date of Acceptance27-Jan-2019
Date of Web Publication18-Dec-2019

Correspondence Address:
Rahul Mehrotra
Max Super Speciality Hospital, 2, Press Enclave Road, Saket, New Delhi - 110 017
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiae.jiae_49_18

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  Abstract 

Isolated aortic valve stenosis in adults with or without aortic regurgitation is almost always secondary to a congenital valvular malformation. These congenital malformations usually present as a bicuspid, quadricuspid, or unicuspid aortic valve. The unicuspid acommissural valve has no commissures or lateral attachments to the aorta at the level of the orifice and appears as a pinhole on imaging. The unicommissural UAV has one lateral commissural attachment to the aorta at the level of the orifice and appears as a slit-shaped structure. We report the case of a 21-year-old man who presented with dyspnea, palpitations and one episode of syncope on exertion. Transesophageal echocardiography confirmed a stenotic, unicuspid, unicommissural aortic valve with dilated ascending aorta. He underwent successful aortic valve replacement since the ascending aorta was only mildly dilated (40 mm). Postoperative course was uneventful and discharge from the hospital in stable condition.

Keywords: Aortic valve abnormalities, congenital aortic stenosis, unicuspid unicommissural aortic valve


How to cite this article:
Kumar R, Bhat SH, Bansal B, Karanjiya R, Mehrotra R. Unicuspid Unicommissural Aortic Valve in Young Adult: Rare Congenital Abnormality Presenting as Symptomatic and Severe Aortic Stenosis. J Indian Acad Echocardiogr Cardiovasc Imaging 2019;3:180-2

How to cite this URL:
Kumar R, Bhat SH, Bansal B, Karanjiya R, Mehrotra R. Unicuspid Unicommissural Aortic Valve in Young Adult: Rare Congenital Abnormality Presenting as Symptomatic and Severe Aortic Stenosis. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2019 [cited 2020 May 29];3:180-2. Available from: http://www.jiaecho.org/text.asp?2019/3/3/180/273306


  Introduction Top


Unicuspid aortic valve is a rare congenital anomaly that usually presents with aortic stenosis. It is usually associated with aortic stenosis presenting in young adults. We present one such rare case of unicuspid unicommissural aortic valve diagnosed by echocardiography.


  Clinical Presentation Top


A 21-year-old man presented with complaints of progressive dyspnea on exertion (The New York Heart Association Class II), palpitations, and one episode of syncope over the course of the past 1 month. He reported no family history of cardiac disease or sudden cardiac death. At the time of presentation, his blood pressure was 120/70 mmHg; heart rate - 80 beats/min; body temperature - 98.6°F; respiratory rate - 16 breaths/min; and oxygen saturation - 94% on room air. His physical examination was significant for a late peaking ejection systolic murmur (grade 3/6) best heard over the right upper sternal border with no selective radiation to any site. The heart sounds were normal with no added sounds being heard.

An electrocardiogram revealed normal sinus rhythm with left ventricular hypertrophy. Transthoracic echocardiography (TTE) displayed hypertrophy of the left ventricle with an ejection fraction of 55%–60%. The aortic valve appeared to be thickened and with a classical appearance suggestive of unicuspid valve in the basal short axis view. Doppler interrogation revealed severe stenosis with a peak velocity of 4.8 m/s, mean pressure gradient of 51 mmHg, and dimensionless index of 0.14. Other valves were normal. The patient was advised transesophageal echocardiography (TEE) which confirmed the presence of a severely stenotic, unicuspid, unicommissural aortic valve with mildly dilated ascending aorta (size ~40 mm) [[Figure 1], [Figure 2], [[Figure 3] and Video 1].
Figure 1: Transthoracic echocardiogram (parasternal long axis view) showing thickened valve with reduced opening in systole

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Figure 2: Two-dimensional transesophageal echocardiography image in mid-esophageal short axis view. The classical appearance of a unicuspid, unicommissural, and aortic valve seen in systole

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Figure 3: Real-time three-dimensional transesophageal echocardiography. A cropped, rendered image of the aortic valve from the aortic side showing a unicuspid, unicommissural, and aortic valve in systole

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In view of the echocardiography findings and symptomatology, the patient was scheduled for aortic valve replacement. Coronary angiography was normal. Inspection of the aortic valve during surgery revealed unicuspid, unicommissural, and stenotic aortic valve. Unicuspid aortic valve (UAV) was replaced with a 21 mm, bileaflet mechanical aortic prosthesis. The procedure and subsequent hospital course was uneventful.


  Discussion Top


A normal trileaflet aortic valve consists of three cusps with three associated commissures, which develop from embryonic tubercles of the aortic trunk. Unicuspid aortic valve develops due to failure of the three aortic cusps to separate before birth.[1] Unicuspid aortic valve is an extremely rare congenital malformation, first reported by Edwards in 1958.[2] The annual incidence of UAV has been estimated at 0.02% in the adult population. However, in those patients, who undergo surgery for isolated aortic stenosis, it is encountered at a rate of 4%–5%.[1] The unicuspid acommissural valve has no commissures or lateral attachments to the aorta at the level of the orifice and appears as a pinhole on imaging.[3] As a result, severe aortic stenosis develops at an early age, and patients can present at birth or infancy in need of surgical correction.[4],[5] The unicommissural UAV has one lateral commissural attachment to the aorta at the level of the orifice and appears as a slit-shaped structure.[3] Because the orifice in unicommissural UAV is larger than that in acommissural UAV, these patients typically remain asymptomatic until the third to fifth decades of life,[1],[3] as did our patient.

Unicuspid aortic valve is four times more commonly found in males as compared to females. Patients with UAV usually develop symptomatic aortic stenosis 20–30 years earlier than the patients with a normal trileaflet aortic valve. Unicuspid aortic valve also has a bimodal presentation: a less aggressive form in older patients and a more aggressive form in younger individuals.[6] The diagnosis of UAV can be made with use of two-dimensional or three-dimensional TTE or TEE,[3] cardiac computed tomography,[7] or cardiac magnetic resonance imaging.[8] With echocardiography, a UAV is best imaged during systole, because the absence of cusp separation during aortic valve opening reveals the classical eccentric “teardrop” opening.[6]

Other abnormalities associated with UAV include aortic dilatation, aneurysm,[9] aortic regurgitation, aortic dissection, coarctation of the aorta, and patent ductus arteriosus.[10] Current guidelines from the American College of Cardiology, the American Heart Association, and the Society of Thoracic Surgeons propose aortic root replacement as a Class IC recommendation when the maximum aortic diameter exceeds 5 cm. These guidelines also recommend that patients undergoing aortic valve surgery for valvular conditions undergo aortic root replacement as well, when the maximum aortic diameter exceeds 4.5 cm.[11],[12]


  Conclusion Top


Unicuspid unicommissural aortic valve is a rare congenital disorder that often leads to severe aortic stenosis. Unicuspid aortic valve is an important clinical entity that should be in the differential diagnosis of younger patients who present with symptoms of heart failure and with a systolic murmur that suggests aortic stenosis. Patients usually present in the third to fifth decades of life and often must undergo corrective valve replacement.[13]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Roberts WC, Ko JM. Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation. Circulation 2005;111:920-5.  Back to cited text no. 1
    
2.
Edwards JE. Pathologic aspects of cardiac valvular insufficiencies. AMA Arch Surg 1958;77:634-49.  Back to cited text no. 2
    
3.
Brantley HP, Nekkanti R, Anderson CA, Kypson AP. Three-dimensional echocardiographic features of unicuspid aortic valve stenosis correlate with surgical findings. Echocardiography 2012;29:E204-7.  Back to cited text no. 3
    
4.
Moller JH, Nakib A, Eliot RS, Edwards JE. Symptomatic congenital aortic stenosis in the first year of life. J Pediatr 1966;69:728-34.  Back to cited text no. 4
    
5.
Falcone MW, Roberts WC, Morrow AG, Perloff JK. Congenital aortic stenosis resulting from a unicommisssural valve. Clinical and anatomic features in twenty-one adult patients. Circulation 1971;44:272-80.  Back to cited text no. 5
    
6.
Novaro GM, Mishra M, Griffin BP. Incidence and echocardiographic features of congenital unicuspid aortic valve in an adult population. J Heart Valve Dis 2003;12:674-8.  Back to cited text no. 6
    
7.
Gibbs WN, Hamman BL, Roberts WC, Schussler JM. Diagnosis of congenital unicuspid aortic valve by 64-slice cardiac computed tomography. Proc (Bayl Univ Med Cent) 2008;21:139.  Back to cited text no. 7
    
8.
Debl K, Djavidani B, Buchner S, Poschenrieder F, Heinicke N, Schmid C, et al. Unicuspid aortic valve disease: A magnetic resonance imaging study. Rofo 2008;180:983-7.  Back to cited text no. 8
    
9.
Kang SD, Seol SH, Park BM, Kim DK, Kim KH, Kim DI, et al. Incidental diagnosis of the unicuspid aortic valve with ascending aortic aneurysm in an asymptomatic adult. J Cardiovasc Ultrasound 2011;19:102-4.  Back to cited text no. 9
    
10.
Mookadam F, Thota VR, Garcia-Lopez AM, Emani UR, Alharthi MS, Zamorano J, et al. Unicuspid aortic valve in adults: A systematic review. J Heart Valve Dis 2010;19:79-85.  Back to cited text no. 10
    
11.
Kurtz CE, Otto CM. Aortic stenosis: Clinical aspects of diagnosis and management, with 10 illustrative case reports from a 25-year experience. Medicine (Baltimore) 2010;89:349-79.  Back to cited text no. 11
    
12.
Svensson LG, Adams DH, Bonow RO, Kouchoukos NT, Miller DC, O'Gara PT, et al. Aortic valve and ascending aorta guidelines for management and quality measures. Ann Thorac Surg 2013;95:S1-66.  Back to cited text no. 12
    
13.
Ingason AB, Sigfusson G, Torfason B. Congenital aortic stenosis due to unicuspid unicommissural aortic valve: A case report. J Cardiothorac Surg 2018;13:61.  Back to cited text no. 13
    


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  [Figure 1], [Figure 2], [Figure 3]



 

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