Total anomalous pulmonary venous connection (TAPVC): A familial cluster of 3 siblings.
Document Type
Article
Publication Date
10-2017
Identifier
DOI: 10.1111/echo.13665
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.
Journal Title
Echocardiography (Mount Kisco, N.Y.)
Volume
34
Issue
10
First Page
1531
Last Page
1535
MeSH Keywords
Echocardiography; Female; Humans; Infant, Newborn; Male; Pulmonary Veins; Scimitar Syndrome; Siblings; Ultrasonography, Prenatal
Keywords
computed tomography (CT); congenital heart disease; fetal echocardiography
Recommended Citation
Acevedo JM, Lee S, Gotteiner N, Lay AS, Patel A. Total anomalous pulmonary venous connection (TAPVC): A familial cluster of 3 siblings. Echocardiography. 2017;34(10):1531-1535. doi:10.1111/echo.13665
COinS
