Congenitally bicuspid aortic valves (BAV) occur in 1-2% of the population. Of those individuals, roughly half will have an ascending aortic aneurysm (AscAA). AscAA puts patients at risk for dissection and rupture, a potentially fatal complication due to bleeding into the pericardium. About a third of patients with BAV have first degree family members with an enlarged ascending aortas as well, even if their aortic valve is normal. This has important implications for screening in the clinical realm.
The specimen in the question is a congenitally bicuspid aortic valve (BAV). First and foremost, there are two cusps. Several features can assist in the proper identification of a congenitally bicuspid aortic valve versus a tricuspid aortic valve with two (apparent) cusps due to acquired commissural fusion. Misdiagnosis can lead to unnecessary testing of (and health care spending dedicated to) the patient and his/her family members. Congenitally BAV have (1) uneven cusp size between the two cusps, (2) raphe (juncture of the two conjoined underdeveloped cusps), (3) obtuse angle of the conjoined (larger) cusp. The fenestrations are degenerative changes that can occur in tricuspid and bicuspid aortic valves.
BAVs do not have an association with cardiac amyloid, pericarditis, or pulmonary hypertension. Mitral stenosis could be associated with a postinflammatory aortic valve specimen; however those aortic valves have commissural fusion, cusp thickening, and a “candle-wax” appearance.
- Melanie Bois