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[The Turner syndrome and cardiovascular changes]

J A Couceiro Gianzo1, R Pérez Cobeta, M Fuster Siebert

  • 1Departamento de Pediatría, Hospital General de Galicia, Santiago de Compostela.

Anales Espanoles De Pediatria
|March 1, 1996
PubMed
Summary

Patients with Turner's syndrome have a higher incidence of congenital heart disease, particularly aortic malformations. The 45,X karyotype is associated with more severe cardiac anomalies.

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Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Context:

  • Turner's syndrome (TS) is a genetic condition affecting females, often associated with cardiovascular abnormalities.
  • Previous studies indicate an increased risk of heart defects in TS patients, but comprehensive data across karyotypes is needed.

Purpose:

  • To evaluate the spectrum and incidence of cardiovascular pathologies in Turner's syndrome patients with various karyotypes.
  • To compare the prevalence of cardiac anomalies in TS patients with the general population.

Summary:

  • A cardiological evaluation of 19 Turner's syndrome patients revealed congenital heart disease in 26%, significantly higher than the general population.
  • Aortic malformations (coarctation, bicuspid aorta) were most common, followed by patent ductus arteriosus and pulmonary valve stenosis.

Related Experiment Videos

  • Severe malformations were more frequent in the 45,X karyotype, while X isochromosome and mosaicism showed different patterns.

    • Impact:

    • Highlights the critical need for routine cardiac screening in all Turner's syndrome patients.
    • Provides insights into genotype-phenotype correlations for cardiac anomalies in TS, aiding personalized risk assessment.
    • Informs clinical management strategies and genetic counseling for individuals with Turner's syndrome.