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

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 ge...

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Bibliographic Details
Published in:Echocardiography (Mount Kisco, N.Y.) N.Y.), 2017-10, Vol.34 (10), p.1531-1535
Main Authors: Acevedo, Jennifer M., Lee, Simon, Gotteiner, Nina, Lay, Amy S., Patel, Angira
Format: Article
Language:English
Subjects:
computed tomography (CT)
congenital heart disease
Echocardiography - methods
Female
fetal echocardiography
Humans
Infant, Newborn
Male
Pulmonary Veins - diagnostic imaging
Pulmonary Veins - surgery
Scimitar Syndrome - diagnostic imaging
Scimitar Syndrome - surgery
Siblings
Ultrasonography, Prenatal - methods
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Summary: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.
ISSN:0742-2822
1540-8175
DOI:10.1111/echo.13665