Acevedo Jennifer M, Lee Simon, Gotteiner Nina, Lay Amy S, Patel Angira
Department of Pediatrics-Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Pediatrics-Cardiology, Children's Mercy, University of Missouri-Kansas City School of Medicine, Kansas, MO, USA.
Echocardiography. 2017 Oct;34(10):1531-1535. doi: 10.1111/echo.13665. Epub 2017 Sep 3.
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.
完全性肺静脉异位连接（TAPVC）是一种罕见的青紫型先天性心脏病（CHD），发生于肺静脉引流至形态学左心房以外的部位时。与其他形式的CHD一样，TAPVC已被证明在家族中具有聚集性，并且已知存在遗传关联。我们报告了一个连续三个兄弟姐妹患家族性TAPVC的病例系列。在每个兄弟姐妹的诊断和管理中，联合使用了胎儿超声心动图、经胸超声心动图以及横断面成像。随后发现第三个兄弟姐妹在15q13.3染色体上存在部分缺失，这很少与其他形式的先天性心脏病相关。
