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A double-barrelled aorta with high aortic Arch.

Tomoaki Oshitani1, Yuki Kawasaki1, Yosuke Murakami1

  • 1Department of Pediatric Cardiology, Children's Medical Care Center, Osaka City General Hospital, 2-13-22 Miyakojimahondori, Miyakojima-ku, Osaka City, Osaka, Japan.

Journal of Cardiology Cases
|December 17, 2021
PubMed
Summary

A rare congenital anomaly, double-barrelled aorta, was observed in a newborn with 22q11.2 deletion syndrome. This case suggests the anomaly may arise from the third and fourth pharyngeal arches, challenging previous theories.

Keywords:
22q11.2 deletionDouble-barrelled aortaDouble-lumen aortaHigh aortic archPersistent fifth aortic arch

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Area of Science:

  • Embryology
  • Cardiovascular Anatomy
  • Medical Genetics

Background:

  • Double-barrelled aorta is a rare congenital anomaly with debated etiology.
  • Previously attributed to the persistence of the fifth pharyngeal arch.
  • Recent embryologic studies propose alternative developmental origins.

Observation:

  • A female newborn with 22q11.2 deletion syndrome presented with a double-barrelled aorta.
  • Catheter angiography confirmed a high aortic arch and a double-barrelled aorta.
  • An upper lumen was identified above the clavicles.

Findings:

  • The findings suggest double-barrelled aorta in this case originated from the persistence of the third and fourth pharyngeal arches.
  • This challenges the traditional explanation involving the fifth pharyngeal arch.
  • Detailed imaging and embryologic analysis were crucial for accurate assessment.

Implications:

  • Accurate classification and understanding of double-barrelled aorta's embryologic origin are important.
  • This case contributes to the ongoing debate regarding the etiology of this rare anomaly.
  • While therapeutic approaches may not change, precise diagnosis aids clinical understanding and research.