Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques

Pediatr Endocrinol Rev. 2012 May:9 Suppl 2:701-9.

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.

MeSH terms

  • Adolescent
  • Adult
  • Aorta, Thoracic / diagnostic imaging
  • Aorta, Thoracic / pathology
  • Aortic Aneurysm / diagnosis
  • Aortic Aneurysm / etiology
  • Aortic Diseases / diagnosis*
  • Aortic Diseases / etiology*
  • Aortic Dissection / diagnosis
  • Aortic Dissection / etiology
  • Cohort Studies
  • Echocardiography
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / etiology*
  • Humans
  • Magnetic Resonance Angiography / methods*
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / prevention & control*
  • Turner Syndrome / complications*
  • Vascular Malformations / diagnosis
  • Vascular Malformations / etiology