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Clinical manifestations and diagnosis of bicuspid aortic valve in adults

Author
Alan C Braverman, MD
Section Editor
Candice Silversides, MD, MS, FRCPC
Deputy Editor
Susan B Yeon, MD, JD, FACC

INTRODUCTION

The bicuspid aortic valve is one of the most common types of congenital heart disease, affecting approximately one percent of the population [1]. Bicuspid aortic valve typically occurs sporadically, but may occur as an autosomal dominant inherited disorder with variable penetrance. It may occur as an isolated lesion or associated with other congenital cardiovascular defects or aortopathy syndromes. A bicuspid aortic valve may develop significant aortic regurgitation and/or stenosis and is at risk for infective endocarditis. Bicuspid aortic valve patients often have aortic root and/or ascending aortic dilatation, with the prevalence of aortic enlargement increasing with age [2]. Bicuspid aortic valve is a risk factor for aortic aneurysm and acute aortic dissection, which is related to underlying aortopathy, cystic medial degeneration, and hemodynamic factors.

This topic will discuss the clinical presentation and diagnosis of bicuspid aortic valve. Treatment of patients with bicuspid aortic valve disease is discussed separately. (See "Management of adults with bicuspid aortic valve disease".)

VALVE ANATOMY

The anatomy of the bicuspid aortic valve includes unequal cusp size (generally due to fusion of two cusps producing the larger of two cusps), a raphe, and smooth cusp margins [1]. A raphe or fibrous ridge is the site of fusion of the two conjoined cusps and is identifiable in most cases. There is a wide spectrum of bicuspid aortic valves, including partial or complete leaflet fusion, the presence or absence of a raphe or multiple raphes, and different orientations of the true commissures [3]. The right and left coronary leaflets are the most commonly fused (70 to 86 percent) with the true commissures oriented in anterior-posterior position (typical pattern). Right and noncoronary leaflet fusion with right-left leaflet orientation (atypical pattern) occurs in 12 percent, while left and noncoronary leaflet fusion (3 percent) is the least common type of bicuspid aortic valve [4]. The coronary arteries usually arise in front of the cusps in which a raphe is present.

Leaflet orientation may affect valve function with fusion of the right and noncoronary leaflet associated with greater valvular dysfunction [5]. Leaflet orientation may also predict the pattern of aortopathy and is associated with differential regional aortic wall stress [6]. (See 'Aortic dilation and aortic dissection' below.)

Calcification of the bicuspid aortic valve increases with age and occurs more rapidly than that seen with tricuspid aortic valve. There is abnormal leaflet motion and turbulence during the cardiac cycle in bicuspid aortic valves and this may play a role in premature degeneration [7].

                          

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Literature review current through: Nov 2016. | This topic last updated: Mon Jun 27 00:00:00 GMT+00:00 2016.
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