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Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene

Carolina Putotto1, Elio Caruso2, Bruno Marino1

  • 1Department of Pediatrics, Obstetrics and Gynecology, Division of Pediatric Cardiology, Sapienza University of Rome, Rome, Italy.

Cardiology in the Young
|May 20, 2022
PubMed

Insights

Anatomically corrected malposition of the great arteries, a rare congenital heart defect (CHD), was identified in an infant with specific cardiac alignments. A mutation in the Nodal gene was discovered, potentially explaining the defect.

Area of Science:

  • Cardiology
  • Developmental Biology
  • Genetics

Background:

  • Anatomically corrected malposition of the great arteries is a rare congenital heart defect (CHD).
  • It involves abnormal alignment and positioning of the aorta and pulmonary artery.
  • Understanding its genetic basis is crucial for diagnosis and treatment.

Purpose of the Study:

  • To report a case of a rare CHD with specific anatomical features.
  • To investigate the potential genetic cause of this malformation.
  • To highlight the role of the Nodal gene in cardiac patterning.

Main Methods:

  • Case report of an infant with congenital heart disease.
  • Detailed echocardiographic and anatomical assessment.
  • Genetic analysis to identify mutations in relevant genes.

Main Results:

  • The infant presented with situs solitus, atrioventricular discordance, and ventriculoarterial concordance.
  • The aorta was positioned anteriorly and to the right of the pulmonary artery.
  • A mutation in the Nodal gene was identified.

Conclusions:

  • Nodal gene mutations may play a role in the pathogenesis of certain CHDs.
  • This finding contributes to understanding left-right patterning defects.
  • Further research is warranted to explore the Nodal gene's function in heart development.

Keywords:
Anatomically corrected malposition of the great arteriesNodal genediscordant atrioventricular connectionslaterality defectsventricular l-loop

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