Unicuspid Aortic Valve and Aortic Arch Aneurysm in a Patient with Turner Syndrome

Bansal, Ankur; Arora, Sandeep; Traub, Darren; Haybron, David

doi:10.1177/021849230801600321

Cited by 6 publications

(7 citation statements)

References 1 publication

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“…Indeed, most case series of patients with UAV describe young individuals with advanced valvular disease presenting for valve replacement. UAV is characterized as having either an eccentric, unicommissural orifice or a pinhole‐shaped acommissural opening presenting with severe stenosis at birth . ‐ Unicommissural valves have a larger effective orifice area than acommissural valves; however, both have a smaller, rounded free edge compared to a trileaflet aortic valve (TAV) .…”

Section: Introductionmentioning

confidence: 99%

“…UAV is characterized as having either an eccentric, unicommissural orifice or a pinhole-shaped acommissural opening presenting with severe stenosis at birth. 1,[5][6][7] Unicommissural valves have a larger effective orifice area than acommissural valves; however, both have a smaller, rounded free edge compared to a trileaflet aortic valve (TAV). 6,[8][9][10][11] This severely narrowed opening and predilection for accelerated calcification of the aortic valve results in more frequent and earlier onset of aortic stenosis than found in individuals with BAV or TAV.…”

Section: Introductionmentioning

confidence: 99%

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Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

Investigators

2017

Congenital Heart Disease

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Background Unicuspid aortic valve (UAV) is a rare disorder, often difficult to distinguish from bicuspid aortic valve (BAV). BAV and UAV share valve pathology such as the presence of a raphe, leaflet fusion, aortic stenosis, aortic regurgitation, and/or ascending aortic dilatation, but a comprehensive echocardiographic comparison of patients with UAV and BAV has not been previously performed. Methods We investigated UAV and BAV patients at an early stage of disease included in GenTAC, a national registry of genetically-related aortic aneurysms and associated cardiac conditions. Clinical and echocardiographic data from the GenTAC registry were compared between 17 patients with UAV and 17 matched-controls with BAV. Results Baseline characteristics including demographics, clinical findings including family history of BAV and aortic aneurysm/coarctation, and echocardiographic variables were similar between BAV and UAV patients; aortic stenosis was more common and more severe in patients with UAV. This was evidenced by higher mean and peak gradient, smaller aortic valve area and more advanced valvular degeneration (all p<0.05). There were no significant differences in aortic dimensions, with a similar pattern of enlargement of the ascending aorta. Conclusion The similar baseline characteristics with more accelerated aortic valve degeneration and stenosis, suggests that UAV represents an extreme in the spectrum of BAV syndromes. Therefore, it is reasonable to consider application of recommendations for management of patients with BAV to those with the rarer UAV.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

Investigators

2017

Congenital Heart Disease

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“…To our knowledge, this is the second reported case of concomitant unicuspid AS and ascending aortic dilatation in a patient with TS (8). Preoperative TTE and TEE misdiagnosed the AV morphology as bicuspid likely due to extensive leaflet calcification and the presence of a raphe; however, the correct diagnosis of UAV was made only by intraoperative TEE.…”

Section: Discussionmentioning

confidence: 70%

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

Essandoh

Castellon-Larios

Zuleta-Alarcon

et al. 2014

Front. Cardiovasc. Med.

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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.

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“…The UAV is prone to be associated with dilatation or dissection of the aorta, involving the aortic root, ascending aorta, or aortic arch, which typically requires surgical intervention. [567] Other associated disorders include aortic coarctation, an aberrant right subclavian artery, and a single coronary artery and ventricular septal defects (VSDs). The importance of an early diagnosis of UAV lies in its risk of sudden cardiac death and association with other congenital anomalies, such as patent ductus arteriosus (PDA), VSD, anomalous coronary arteries, and coarctation of the aorta.…”

Section: Discussionmentioning

confidence: 99%