Conotruncal cardiac anomalies

Conotruncal heart defects are a group of congenital cardiovascular anomalies. They are a leading cause of symptomatic cyanotic cardiac disease diagnosed in utero.

They may account for up to a fifth of all congenital cardiac anomalies diagnosed prenatally 2.

Due to parallel fetal circulation, these are well tolerated in utero. Affected individuals present with acute hypoxia within the first few days following delivery. In the present day and age, most are detected on in utero ultrasound.

They are usually defined as malformations of the cardiac outflow tracts and presumably result from either a disturbance of the outflow tract of the embryonic heart, or impaired development of the branchial arch and arteries, or both.

This class of defects includes:

  • 22q deletion syndrome: conotruncal anomalies are a frequent component of this syndrome
  • maternal diabetes
Congenital heart disease

There is more than one way to present the variety of congenital heart diseases. Whichever way they are categorized, it is helpful to have a working understanding of normal and fetal circulation, as well as an understanding of the segmental approach to imaging in congenital heart disease.

Article information

rID: 15719
Synonyms or Alternate Spellings:
  • Conotruncal anomalies
  • Conotruncal cardiac anomaly
  • Conotruncal cardiac defects
  • Conotruncal cardiac defect
  • Conotruncal defects
  • Conotruncal heart defects (CHD)
  • Conotruncal heart defects

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Cases and figures

  • Case 1: double outlet right ventricle
    Drag here to reorder.
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