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Crossed pulmonary arteries and DiGeorge syndrome: case reports and literature review

Francesca Cairello1, Marta Gagliardi2, Silvia A Magrassi1

  • 1Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.

Cardiology in the Young
|February 23, 2022
PubMed

Insights

DiGeorge syndrome diagnosis can be challenging. Crossed pulmonary arteries on echocardiography in newborns may indicate this condition, prompting genetic testing for 22q11.2 microdeletion.

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Developmental Biology

Background:

  • DiGeorge syndrome presents with diverse symptoms, complicating diagnosis.
  • Congenital heart defects (CHDs) are frequent in DiGeorge syndrome, aiding diagnosis.
  • Specific cardiac anomalies, like crossed pulmonary arteries, are linked to 22q11.2 microdeletion.

Purpose of the Study:

  • To highlight the diagnostic utility of echocardiography in identifying DiGeorge syndrome.
  • To report cases where crossed pulmonary arteries led to DiGeorge syndrome diagnosis.
  • To recommend specific diagnostic pathways for suspected DiGeorge syndrome.

Main Methods:

  • Case report of two newborns with DiGeorge syndrome.
  • Echocardiographic examination focusing on pulmonary artery anatomy.
  • Genetic analysis for 22q11.2 microdeletion.

Main Results:

  • Crossed pulmonary arteries were identified via echocardiography in both cases.
  • The echocardiographic finding prompted further investigation.
  • Subsequent genetic testing confirmed 22q11.2 microdeletion in both patients.

Conclusions:

  • Echocardiography is crucial for detecting cardiac anomalies in DiGeorge syndrome.
  • Crossed pulmonary arteries are a potential indicator for 22q11.2 microdeletion.
  • A combined approach of echocardiography and genetic testing ensures timely DiGeorge syndrome diagnosis.

Keywords:
22q11.2 deletion syndromeCrossed pulmonary arteriesmalposition of pulmonary arteries

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