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Published on: May 5, 2018

Prenatal diagnosis of topsy-turvy heart

Edgar Jaeggi1, David Chitayat, Fraser Golding

  • 1Fetal Cardiac Program, Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Canada. edgar.jaeggi@sickkids.ca

Cardiology in the Young
|May 8, 2008
PubMed

Insights

This study details a rare congenital heart defect in siblings, featuring unusual heart chamber arrangement and airway compression. The condition

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Congenital cardiac diseases represent a significant global health burden.
  • Rare cardiac malformations pose diagnostic and therapeutic challenges.
  • Understanding genetic underpinnings of congenital heart defects is crucial for diagnosis and treatment.

Purpose of the Study:

  • To describe a unique congenital cardiac disease identified prenatally in two siblings.
  • To investigate the anatomical and topographical abnormalities of the heart and great vessels.
  • To explore the potential genetic basis of this rare condition.

Main Methods:

  • Prenatal diagnosis of cardiac anomaly.
  • Detailed anatomical description of cardiac structure and great vessel relationships.
  • Clinical assessment of airway compression in the surviving sibling.
  • Family history analysis to infer inheritance pattern.

Main Results:

  • A unique form of congenital cardiac disease with superior-inferior atrial and ventricular arrangement.
  • Concordant atrioventricular and ventriculo-arterial connections with normal arterial relationships.
  • Posterior-inferior displacement of ventricular outlets and a low-lying aortic arch causing severe airway compression.

Conclusions:

  • The recurrence in siblings from consanguineous parents suggests a single gene disorder with recessive inheritance.
  • This cardiac anomaly presents with significant airway compromise, impacting survival.
  • Further research is warranted to identify the specific gene responsible for this rare condition.

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