Related Experiment Video

Updated: Feb 23, 2026

Three-Dimensional Echocardiographic Method for the Visualization and Assessment of Specific Parameters of the Pulmonary Veins
06:48

Three-Dimensional Echocardiographic Method for the Visualization and Assessment of Specific Parameters of the Pulmonary Veins

Published on: October 28, 2020

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Total anomalous pulmonary venous connection (TAPVC): A familial cluster of 3 siblings

Jennifer M Acevedo1, Simon Lee1, Nina Gotteiner1

  • 1Department of Pediatrics-Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Echocardiography (Mount Kisco, N.Y.)
|September 4, 2017
PubMed

Insights

Total anomalous pulmonary venous connection (TAPVC), a rare congenital heart defect, was observed in three siblings. Genetic analysis of the third sibling revealed a chromosome 15q13.3 deletion, suggesting a potential genetic link.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Total anomalous pulmonary venous connection (TAPVC) is a rare cyanotic congenital heart disease (CHD) characterized by abnormal pulmonary venous drainage.
  • Familial clustering and genetic associations are recognized in various forms of CHD, including TAPVC.

Observation:

  • This report details a case series of three consecutive siblings diagnosed with TAPVC.
  • Diagnostic modalities included fetal echocardiography, transthoracic echocardiography, and cross-sectional imaging.

Findings:

  • The third sibling presented with a partial deletion in chromosome 15q13.3.
  • This chromosomal abnormality has been infrequently linked to other congenital heart diseases.

Implications:

  • This case series highlights a potential genetic etiology for familial TAPVC.
  • Further research into chromosome 15q13.3 deletions may elucidate mechanisms underlying CHD development.

Keywords:
computed tomography (CT)congenital heart diseasefetal echocardiography

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