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Conotruncal cardiac anomalies

Dr Abhilash Sandhyala and Dr Yuranga Weerakkody et al.

Conotruncal heart defects (CHD)s are group of congenital cardiovascular anomalies. They are a leading cause smpytomatic cyanotic cardiac disease diagnosed in utero.

Epidemiology

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

Clinical presentation

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

Pathology

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

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