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

Autor:	Nina L. Gotteiner, Amy S. Lay, Jennifer M. Acevedo, Angira Patel, Simon Ming-Yuen Lee
Rok vydání:	2017
Předmět:	medicine.medical_specialty 030219 obstetrics & reproductive medicine medicine.diagnostic_test Heart disease business.industry Cyanotic congenital heart disease Left atrium 030204 cardiovascular system & hematology Disease cluster medicine.disease 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Internal medicine medicine Cardiology Radiology Nuclear Medicine and imaging Sibling Total anomalous pulmonary venous connection Cardiology and Cardiovascular Medicine business Fetal echocardiography
Zdroj:	Echocardiography. 34:1531-1535
ISSN:	0742-2822
DOI:	10.1111/echo.13665
Popis:	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.
Databáze:	OpenAIRE
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