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Clinical outcome in Down syndrome patients with congenital heart disease

Efrén Martínez-Quintana1, Fayna Rodríguez-González, José María Medina-Gil

  • 1Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain. efrenmartinezquintana@yahoo.es

Cirugia Y Cirujanos
|July 21, 2010
PubMed

Insights

Long-term complications in Down syndrome patients with congenital heart disease are not well understood. This study found left atrioventricular valve insufficiency and left ventricle outflow tract obstruction were common issues requiring reoperation.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatric Medicine

Background:

  • Long-term outcomes for patients with Down syndrome and congenital heart disease (CHD) are not well-documented.
  • Atrioventricular septal defect (AVSD) is a common CHD in Down syndrome patients.

Purpose of the Study:

  • To investigate the long-term complications in adult patients with Down syndrome and congenital heart disease.
  • To compare the incidence of left atrioventricular valve insufficiency in patients with and without Down syndrome who have atrioventricular septal defects.

Main Methods:

  • Retrospective study of 317 patients with congenital heart disease followed from 2004-2008.
  • Analysis of 19 Down syndrome patients with CHD, focusing on diagnosis, surgical history, and long-term complications.
  • Comparison of left atrioventricular valve insufficiency rates between AVSD patients with and without Down syndrome.

Main Results:

  • Down syndrome patients constituted 6% of the CHD cohort, with AVSD being the most frequent diagnosis (63%).
  • Reoperations were required in 53% of operated patients due to left ventricle outflow tract obstruction or left atrioventricular valve insufficiency.
  • Eisenmenger syndrome, bacterial endocarditis, and mortality were observed; bosentan showed potential benefit in functional class improvement for Eisenmenger syndrome.

Conclusions:

  • Left atrioventricular valve insufficiency and left ventricle outflow tract obstruction are significant long-term complications in patients with atrioventricular septal defect, often necessitating surgical reintervention.
  • No significant difference in left atrioventricular valve insufficiency was found between AVSD patients with and without Down syndrome.
Abstract

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