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Quadricuspid aortic valve in a patient with Turner syndrome

By Salah A Mohamed, Martin Misfeld, Thorsten Hanke, Gazanfer Belge, Joern Bullerdiek and Hans H Sievers


A quadricuspid aortic valve is an uncommon congenital anomaly that is often associated with other cardiac disorders. Most reported cases of quadricuspid aortic valves are detected incidentally during necropsy or aortic valve replacement and, therefore, the potential clinical course still remains unclear. A case of a 47-year-old woman with grade III to IV aortic insufficiency and mild left ventricular dilation with an end-diastolic diameter of 59 mm is presented. During surgery for aortic valve replacement (Ross procedure), a quadricuspid aortic valve was identified. Two years after the successful Ross procedure, a molecular genetic study of this rare anomaly was performed using karyotyping, fluorescence in situ hybridisation and polymerase chain reaction. Cytogenetic analysis detected chromosomal aberration 45,X0/46,XX, indicating a low-level X chromosome mosaicism; repeat karyotypes were normal. This is the first reported case of a quadricuspid aortic valve in a woman with Turner syndrome

Topics: Clinical Cardiology: Case Report
Publisher: Pulsus Group Inc
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Provided by: PubMed Central
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