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

Acevedo, J. M.; Lee, S.; Gotteiner, N.; Lay, A. S.; Patel, A.

Echocardiography. 2017 Sep 4; 34(10):1531-1535


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.

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