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Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and

María Gabriela Matta1, Prithviraj Dhonde1, Edward Dababneh1

  • 1Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia Department of Cardiology Division of Specialist Medical Services Gold Coast Hospital and Health Services Southport Australia.

Archivos Peruanos De Cardiologia Y Cirugia Cardiovascular
|November 20, 2025
PubMed

Insights

A woman with complex heart conditions, including left atrial isomerism and sinus node dysfunction, received a specialized pacemaker. Genetic testing revealed a novel chromosome 17 duplication, potentially linked to her cardiac abnormalities.

Area of Science:

  • Cardiology
  • Genetics
  • Congenital Heart Disease

Background:

  • Left atrial isomerism is a complex congenital heart defect.
  • Sinus node dysfunction and left ventricular hypertrabeculation are significant cardiac conditions.
  • Heterotaxy and conduction disorders can have familial patterns.

Keywords:
Genetic DiseasesHeterotaxy SyndromeSick Sinus SyndromeVentricular Dysfunction

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