Rare Case of an Adult With a Stenotic Acommissural Unicuspid Aortic Valve

A 35-year-old woman with no history of cardiovascular disease was admitted to the Department of Cardiology for progressive dyspnea, fatigue, and syncopal episodes over the preceding 6 months. In addition, she reported a history of erosive gastritis, depression, tobacco smoking, and alcohol abuse. The patient had given birth to 2 healthy children (when she was 23 and 25 years old, respectively) and the course of each pregnancy and delivery was uncomplicated. During heart auscultation, a loud systolic murmur was detected over the aortic area, radiating to the neck. Transthoracic echocardiography revealed severe aortic stenosis with an aortic velocity of 4.84 m/sec, a mean pressure gradient of 45 mm Hg, an aortic valve area (AVA) of 0.9 cm2 (by continuity equation and planimetry), and mild aortic regurgitation (Fig. 1A; see Videos 1 and 2 , view videos online). A unicuspid aortic valve (UAV) was suspected. Three-dimensional transoesophageal echocardiography confirmed acommissural UAV stenosis with an AVA of 0.8 cm2 by planimetry (Fig. 1B; see Video 3 , view video online). Coronary angiography showed no abnormalities. The patient underwent surgical valve replacement. A mechanical valve prosthesis was implanted without complications. Acommissural UAV was confirmed on intraoperative and pathologic examination (Fig. 1, C and D). Transthoracic echocardiography performed 6 days after the surgery revealed normal function of the aortic valve prosthesis. The patient was discharged in good condition. Unicuspid aortic valve is a rare congenital defect occurring in 0.02% of the population and accounts for 4.9% of adults undergoing isolated aortic valve replacement (4.5% unicommissural UAV, 0.4% acommissural UAV). UAV is defined as unicommissural in cases when 2 commissures are fused or as acommissural when is formed by the fusion of all 3 cusps with a central orifice and no lateral attachment to the aorta.1Singh S. Ghayal P. Mathur A. et al.Unicuspid unicommissural aortic valve: an extremely rare congenital anomaly.Tex Heart Inst J. 2015; 42: 273-276Crossref PubMed Scopus (21) Google Scholar UAV occurs more frequently in men, and is usually associated with cardiovascular system abnormalities such as patent ductus arteriosus, ventricular septal defect, anomalous coronary arteries, coarctation of the aorta, and aortic dilation.1Singh S. Ghayal P. Mathur A. et al.Unicuspid unicommissural aortic valve: an extremely rare congenital anomaly.Tex Heart Inst J. 2015; 42: 273-276Crossref PubMed Scopus (21) Google Scholar, 2Roberts W.C. Ko J.M. 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: 920-925Crossref PubMed Scopus (673) Google Scholar, 3Noly P.E. Basmadjian L. Bouhout I. et al.New insights into unicuspid aortic valve disease in adults: not just a subtype of bicuspid aortic valves.Can J Cardiol. 2016; 32: 110-116Abstract Full Text Full Text PDF PubMed Scopus (32) Google Scholar In most cases, acommissural UAV is diagnosed in early childhood, but in very rare cases it may remain asymptomatic into adulthood.2Roberts W.C. Ko J.M. 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: 920-925Crossref PubMed Scopus (673) Google Scholar,3Noly P.E. Basmadjian L. Bouhout I. et al.New insights into unicuspid aortic valve disease in adults: not just a subtype of bicuspid aortic valves.Can J Cardiol. 2016; 32: 110-116Abstract Full Text Full Text PDF PubMed Scopus (32) Google Scholar The assessment of hemodynamic severity can be challenging as Doppler echocardiography and invasive measures of pressure gradient and aortic valve area can be discrepant. In the case described, 3-dimensional transoesophageal echocardiography proved to be crucial for the detection of acommissural UAV and accurately reflected the intraoperative image.1Singh S. Ghayal P. Mathur A. et al.Unicuspid unicommissural aortic valve: an extremely rare congenital anomaly.Tex Heart Inst J. 2015; 42: 273-276Crossref PubMed Scopus (21) Google Scholar, 2Roberts W.C. Ko J.M. 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: 920-925Crossref PubMed Scopus (673) Google Scholar, 3Noly P.E. Basmadjian L. Bouhout I. et al.New insights into unicuspid aortic valve disease in adults: not just a subtype of bicuspid aortic valves.Can J Cardiol. 2016; 32: 110-116Abstract Full Text Full Text PDF PubMed Scopus (32) Google Scholar The authors have no funding sources to declare.