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

Jennifer M. Acevedo, Simon Lee, Nina Gotteiner, Amy S. Lay, Angira Patel*

*Corresponding author for this work

Research output: Contribution to journalArticle

Abstract

Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease (CHD) that occurs when the pulmonary veins drain into a site other than the morphologic left atrium. As with other forms of CHD, TAPVC has been shown to cluster in families and is known to have genetic association. We report on a case series of familial TAPVC in three consecutive siblings. A combination of fetal echocardiography, transthoracic echocardiography, as well as cross-sectional imaging was utilized in the diagnosis as well as management of each sibling. The third sibling was subsequently found to have a partial deletion in chromosome 15q13.3, which has been rarely associated with other forms of congenital heart disease.

Original languageEnglish (US)
Pages (from-to)1531-1535
Number of pages5
JournalEchocardiography
Volume34
Issue number10
DOIs
StatePublished - Oct 2017

Keywords

  • computed tomography (CT)
  • congenital heart disease
  • fetal echocardiography

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

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