Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report

Abstract

Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

Síndrome de Turner, aortopatía unicúspide y gestación: decisiones difíciles en escenarios complejos

“…Several aspects are relevant in this case: on the one hand, the unicuspid aortic valve is a rare pathology with an estimated incidence of 0.02% of the general population and of which isolated cases associated with Turner syndrome have been described. In this, pathology aortic malformations are described in up to 30% of patients 3 . On the other hand, the possibility of contemplating repairs the valve with replacement of the ascending aorta in the same surgical act avoiding, in this way, the potential complications of a prosthesis, especially in a young woman with desire of pregnancy.…”

Unicuspid and quadricuspid aortic valves: two case reports and literature review

“…Two forms of unicuspid aortic valve have been described, the unicommissural variant which is characterised by one commissure, the presence of a lateral attachment to the aorta with an eccentric orifice and the acommissural form in case of the absence of such attachment and presence of a central orifice. 6 In their recently published article, Slostad et al 7 reported that they detected unicommissural type unicuspid aortic valve in 100% of 75 patients after surgery and autopsy. In some patients, it is difficult to make a differential diagnosis on echocardiography from the bicuspid aortic valve.…”

“…Slostad et al 7 reported that, 27% of the patients with the unicuspid aortic valve, had additional structural cardiac comorbidities, including patent foramen ovale, coarctation of the aorta, hypertrophic cardiomyopathy, aortic dissection. Additionally, interatrial 14,15 and/or interventricular septal defect, 16,17 Fallot tetralogy, 18 truncus arteriosus, 19 coarctation of the aorta, 20 Turner syndrome, 6 and Williams syndrome 21 have been reported in the literature. However, unicuspid and quadricuspid aortic valves are most frequently associated with coronary abnormalities, such as a single coronary artery, origin and/or course abnormalities of coronary arteries.…”

Unicuspid Aortic Valve: A Rare Congenital Anomaly

“…Compared with BAV and TAV, UAV has the most calcium deposition [34]. Focal or diffuse calcification likely obscures the valve morphology and makes it barely discernible by echocardiography or mimics a calcified raphe so that UAV may be easily misdiagnosed as BAV [11, 35, 53]. Presumably, UAV should be easier to diagnose in pediatric population due to uncommon encountered aortic valve calcifications and better acoustic windows [43].…”