| Literature DB >> 28866869 |
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.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