Pediatric Cardiology

, Volume 20, Issue 2, pp 108–112

Turner's Syndrome: Cardiologic Profile According to the Different Chromosomal Patterns and Long-Term Clinical Follow-Up of 136 Nonpreselected Patients

Authors

  • D. Prandstraller
    • Pediatric Cardiology Unit, Institute of Cardiovascular Diseases, University of Bologna, 40138 Bologna, Italy
  • L. Mazzanti
    • First Pediatric Clinic, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
  • F.M. Picchio
    • Pediatric Cardiology Unit, Institute of Cardiovascular Diseases, University of Bologna, 40138 Bologna, Italy
  • C. Magnani
    • First Pediatric Clinic, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
  • R. Bergamaschi
    • First Pediatric Clinic, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
  • A. Perri
    • First Pediatric Clinic, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
  • E. Tsingos
    • First Pediatric Clinic, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
  • E. Cacciari
    • First Pediatric Clinic, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
Article

DOI: 10.1007/s002469900416

Cite this article as:
Prandstraller, D., Mazzanti, L., Picchio, F. et al. Pediatr Cardiol (1999) 20: 108. doi:10.1007/s002469900416

Abstract

The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni. There are few studies about the different cardiologic problems stemming from different chromosomal patterns of X monosomies. We reviewed a large series of 136 patients with Turner syndrome without cardiologic preselection, 29 of whom had some kind of CHD (21.5%). Partial anomalous pulmonary venous drainage (PAPVD; 2.9%), aortic valve disease (stenosis and/or incompetence) (AoVD; 5.1%), aortic coarctation (AoCo; 4.4%), and bicuspid aortic valve (BicAo; 14.7%) are much more frequent in Turner's syndrome than in the normal population, with the difference being statistically highly significant. In our cases, only the 45, X subjects showed severe CHD and multiple lesions, whereas the X-ring pattern was associated with an elevated prevalence of BicAo. Patients with X-deletion showed no signs of congenital heart malformations. Eleven patients, all with 45, X pattern, and significant CHD, underwent cardiac surgery at a mean age of 7.7 ± 5.3 years (range 7 days–18 years) without complications. At follow-up of 3–18 years (8.6 ± 5.2), we were unable to observe any type of evolution of the remaining untreated cardiovascular anomalies.

Key words: Turner's syndrome — Karyotype — Aortic coarctation — Partial anomalous pulmonary venous drainage — Aortic valve disease

Copyright information

© Springer-Verlag New York Inc. 1999