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How Normal is a 'Normal' Heart in Fetuses and Infants with Down Syndrome?

Emmeline Calkoen1, Bauke Adriaanse, Monique Haak

  • 1Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands.

Fetal Diagnosis and Therapy
|June 27, 2015
PubMed

Insights

Hearts in fetuses with Down syndrome (DS) show differences even without apparent defects. Studies reveal a larger membranous septum, shorter ventricular septum, and valve dysplasia in DS hearts compared to controls.

Area of Science:

  • Cardiology
  • Developmental Biology
  • Genetics

Background:

  • Down syndrome (DS) is associated with congenital heart disease in 44-56% of fetuses.
  • Cardiac differences exist in DS fetuses even without overt structural heart defects.
  • Atrioventricular (AV) septum and valve morphology in DS require further investigation.

Purpose of the Study:

  • To compare the atrioventricular (AV) septum and valves in fetuses with Down syndrome (DS) and controls.
  • To investigate cardiac differences in DS fetuses with and without atrioventricular septal defects (AVSD).

Main Methods:

  • Histological examination of ventricular septum, membranous septum, and AV valves in 15 DS no-AVSD, 8 DS AVSD, and 34 control hearts.
  • Ultrasound measurement of ventricular septum length in fetal and infant hearts (DS and controls).

Main Results:

  • The membranous septum was 3 times larger in DS fetuses without AVSD compared to controls.
  • Valve dysplasia was observed in 64% of DS hearts without AVSD.
  • The ventricular septum was shorter in DS hearts (with and without AVSD) than in controls.

Conclusions:

  • Hearts in DS fetuses without AVSD exhibit significant structural differences.
  • These differences include a larger membranous septum, shorter ventricular septum, and AV valve dysplasia.
  • DS hearts, even without apparent septal defects, are not anatomically normal.
Abstract

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