Quadricuspid aortic valve in a patient with Turner syndrome.

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