Literature DB >> 28866869

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

Jennifer M Acevedo1, Simon Lee1, Nina Gotteiner1, Amy S Lay2, Angira Patel1.   

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.
© 2017, Wiley Periodicals, Inc.

Entities:  

Keywords:  computed tomography (CT); congenital heart disease; fetal echocardiography

Mesh:

Year:  2017        PMID: 28866869     DOI: 10.1111/echo.13665

Source DB:  PubMed          Journal:  Echocardiography        ISSN: 0742-2822            Impact factor:   1.724


  2 in total

1.  The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases.

Authors:  Jing Wang; Xiaoqin Ma; Qi Zhang; Yinghui Chen; Dan Wu; Pengjun Zhao; Yu Yu
Journal:  Front Cell Dev Biol       Date:  2021-05-04

2.  The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

Authors:  Tyler A Fick; Daryl A Scott; Philip J Lupo; Justin Weigand; Shaine A Morris
Journal:  Cardiol Young       Date:  2021-07-02       Impact factor: 1.023

  2 in total

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