Aortic stenosis: A routine diagnosis with a rare cause.

A 40-year-old male patient presented with dyspnea on exertion and palpitation from 2 months ago. Physical examination revealed normal vital sign and a systolic murmur grade 3/6 in aortic area. Echocardiography revealed unicuspid aortic valve with an eccentric orifice, calcification, and aortic valve area of 0.9 cm2. This case report highlights the usefulness of three-dimensional echocardiography for the determination of number of aortic valve cusps, presence of raphe and morphology of valve.

INTRODUCTION

The incidence of unicuspid aortic valve (UAV) is 0.02% in adult population, and unlike the bicuspid aortic valve, there are no familial cases reported.[12] Unicuspid valves are more prone to bulky calcification, early, presentation of symptoms, and faster progression. There are no diagnostic criteria of the guidelines for diagnosing UAV, and in a literature review, we find that one of four patients cannot be precisely diagnosed with two-dimensional transesophageal echocardiography (2DTEE), and the diagnosis is often confused with bicuspid valve.

CASE REPORT

A 40-year-old male patient presented with dyspnea on exertion and palpitation from 2 months ago. He complained of one episode of blurred vision more than 30 min which resolved spontaneously. He has no risk factor or positive family history of heart disease. Physical examination revealed normal vital sign and a systolic murmur grade 3/6 in aortic area. Electrocardiography showed left ventricular hypertrophy (LVH) and normal sinus rhythm. Chest X-ray revealed dilated ascending aorta. 2DTTE and 3DTEE en face view clearly revealed unicommissural UAV [Figure 1], resulting in a circle-shaped appearance, eccentric orifice, medially situated commissure, and calcified lateral part of the leaflet. Aortic valve area of 0.9 cm2, Doppler velocity index 0.2 [Figure 2], mild aortic regurgitation, and severe concentric LVH were observed. There was also dilatation of ascending aorta up to 53 mm [Video 1]. As in bicuspid aortic valves, aortic root dilatation of 45 mm or more in association of severe aortic stenosis should be thought of as an indication for replacement of the ascending aorta.[1] Our patient underwent successful Bentall operation with a 23 mm valve (St. Jude Medical, Inc., St. Paul, MN, USA). Surgical inspection confirmed the diagnosis of unicommissural UAV. The patient was discharged from the hospital in stable clinical condition and on medical follow-up. He remained asymptomatic for 2 years after surgery.

Figure 1

Three-dimensional echocardiography of aortic valve

Figure 2

Echo-Doppler images of transvalvular gradient

DISCUSSION

This case highlights the utility of 3DTEE for precise definition of morphology of UAV, presence of raphe, and position of commissure. In majority of the cases, commissure attach to the aorta posteriorly; however, in our case, commissural attachment situated medially.[34] There are two subtypes of UAV:[2] Slit-shaped and pinhole. As we expect, our patient is a variant of slit-shaped UAV because pinhole UAV has early presentation in infancy. There is also some embryological difference between these two subtypes: In pinhole UAV, leaflet mesoderm grows in circumferentially from annulus, but in slit-shaped UAV, mesoderm grows in with two cooptation points. UAV associates with some other congenital anomaly of coronary artery, patent ductus arteriosus, and coarctation of aorta; however, this association is more prevalent in pinhole UAV. The symptom of this congenital anomaly is related to the type of anomaly: Pinhole anomaly is more likely to be presented by heart failure and failure to thrive during infancy whereas slit-shaped type presents earlier in comparison with other types of valvular aortic stenosis but symptoms are the same: Dyspnea on exertion, angina, syncope, calcium emboli, and monocular blindness. Treatment is always by surgery and replacement of aortic valve. This case report highlights two important features for clinicians in their daily practice: First of all, in case of blurred vision, they should search for cardiac source of embolization; second important feature is the usefulness of 3DTEE for determination of the number of cusps, presence or absence of commissures, and shape of the valve. In conclusion, unicuspid unicommissural aortic valve is a rare congenital disorder which presents in the third decade of life and almost always need corrective valve replacement.

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Conflicts of interest

There are no conflicts of interest.