title: Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.
abstract: Turner syndrome (TS) is at high risk for congenital heart diseases (CHD), aortic dilatation (AoDil) and dissection. New imaging techniques such as MRI have revealed the presence of vascular anomalies (VA) undetected at echo. MR angiography has shown a high prevalence of aortic and venous anomalies. The VA often coexist and interact to increase the risk of premature death in adulthood. AoDil and VA have been found also in asymptomatic individuals with no predisposing factors, but the prevalence is still unknown. We evaluated 100 TS subjects (15-35 yrs) with no aortic CHD at echocardiography with transthoracic MRA; 42 of them showed VA and 58 did not. Aortic diameters were indexed on BSA. At the sinuses of Valsalva a higher prevalence of AoDil was found in subjects with VA than without; 57% of them showed AoDil. The presence of VA (elongation of the transverse arch, bovine arch, left superior vena cava, PAPVD etc.) increased their relative risk of AoDil by more than 2 times. Excluding BSA influence, a severe phenotype influenced positively ascending AoDil. New imaging techniques enhance our ability to provide a prognosis for their adult age and in particular before they seek to become pregnant.
authors.affiliation: Rare Disease and Auxology Unit, Department of Paediatrics, University of Bologna, S.Orsola-Malpighi Hospital, Bologna, Italy. laura.mazzanti@unibo.it
authors.forename: Laura
authors.initials: L
authors.lastname: Mazzanti
authors.forename: Luigi
authors.initials: L
authors.lastname: Lovato
authors.forename: Daniela
authors.initials: D
authors.lastname: Prandstraller
authors.forename: Emanuela
authors.initials: E
authors.lastname: Scarano
authors.forename: Federica
authors.initials: F
authors.lastname: Tamburrino
authors.forename: Francesca
authors.initials: F
authors.lastname: Montanari
authors.forename: Gian Gaspero
authors.initials: GG
authors.lastname: Mineo
authors.forename: Annamaria
authors.initials: A
authors.lastname: Perri
authors.forename: Benedetta
authors.initials: B
authors.lastname: Vestrucci
authors.forename: Andrea
authors.initials: A
authors.lastname: Giardini
mesh_terms: D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000175:diagnosis / Q000209:etiology; D001013:Aorta, Thoracic / Q000000981:diagnostic imaging / Q000473:pathology; D001014:Aortic Aneurysm / Q000175:diagnosis / Q000209:etiology; D001018:Aortic Diseases / Q000175:diagnosis* / Q000209:etiology*; D015331:Cohort Studies; D004452:Echocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D018810:Magnetic Resonance Angiography / Q000379:methods*; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000517:prevention & control*; D014424:Turner Syndrome / Q000150:complications*; D054079:Vascular Malformations / Q000175:diagnosis / Q000209:etiology