Pediatric Partial and Intermediate Atrioventricular Septal Defects Differential Diagnoses

Updated: Jan 24, 2019
  • Author: M Silvana Horenstein, MD; Chief Editor: Syamasundar Rao Patnana, MD  more...
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DDx

Diagnostic Considerations

Important considerations

Avoid delays in the diagnosis of these defects as they may lead to morbidity and mortality.

Special concerns

Seek genetic counseling for possible risk factors, especially in families with congenital heart disease (CHD).

Defects of the extracellular matrix have been associated with a higher incidence of extracardiac anomalies, such as gastrointestinal (Hirschsprung disease, intestinal obstruction, annular pancreas, imperforate anus, biliary atresia) and facial (facial cleft).

In patients with CHARGE association (colobomata, heart defects [in 50%], choanal atresia, retardation of growth or development, genital hypoplasia, ear anomalies), atrioventricular septal defect (AVSD) may be seen, as well as other CHDs.

Patients with Ellis–van Creveld syndrome may have AVSD or a common atrium.

Other problems to be considered

When evaluating patients with suspected partial and intermediate AVSDs, also consider the following conditions:

  • Cleft mitral valve

  • Common atrium (usually associated with complex CHD)

Differential Diagnoses