Conotruncal cardiac anomalies

Last revised by Dr Joshua Yap on 22 Apr 2022

Conotruncal heart defects are a group of congenital cardiovascular anomalies involving the outflow tracts and great vessels. 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.

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

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:

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Cases and figures

  • Case 1: double outlet right ventricle
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