Familial Prenatal Total Anomalous Pulmonary Venous Drainage: Genetic Implications and Multimodal Echocardiographic and MRI Assessment

Abstract

We report 2 cases of fetal total anomalous pulmonary venous drainage (TAPVD) diagnosed in subsequent pregnancies in the same patient. In the first pregnancy, supracardiac TAPVD with obstruction at the ascending vein was identified at 20 weeks. Three-dimensional (3D) motion-corrected fetal cardiac magnetic resonance imaging (MRI) aided visualization of the venous pathway and revealed subtle T2-weighted lung heterogeneity, suggesting secondary pulmonary lymphangiectasia. The baby was delivered in cardiac theatres, with surgical repair at 4 hours of life. In a subsequent pregnancy, infracardiac TAPVD was diagnosed at 15 weeks using 3D fetal echocardiography. No pulmonary venous obstruction was present. Third-trimester fetal cardiac MRI confirmed normal lung appearances. Neonatal surgical repair again occurred at 4 hours of age. Genetic testing, including microarray comparative genomic hybridization of the index child and trio whole-genome sequencing of both parents and the index child, identified no causative variants. Familial TAPVD, though rare, should prompt careful fetal echocardiographic screening in subsequent pregnancies. Multimodal imaging with echocardiography and MRI is a useful aid to fetal diagnosis and perinatal planning strategies.

Keywords: cardiac magnetic resonance; congenital heart defect; echocardiography; three-dimensional imaging; ultrasonography.

Graphical abstract

Figure 1

Fetal Echocardiography at 32 Weeks of Gestation (Case 1) (A) Four-chamber view. (B) Four-chamber view with power color Doppler. (C) Coronal view (fetal head to the left). (D) Coronal view with power color Doppler. There is a confluence (C) behind the left atrium (LA) with no direct connection of the pulmonary veins to the cardiac mass. The confluence drains via an ascending vein (asterisk) to the junction of the innominate vein and superior vena cava (SVC). Doppler assessment showed a flat, nonphasic signal in the pulmonary veins (E) with an area over turbulence in the ascending vein (F). L = left; LV = left ventricle; R = right; RA = right atrium; RV = right ventricle.

Figure 2

Segmentation From Motion-Corrected Slice-to-Volume Magnetic Resonance Imaging Data (Posterior Rightward Projection) at 34 Weeks The confluence (C) drains via an ascending vein (asterisk) that passes between the right main bronchus (white mesh) and right pulmonary artery (RPA) before draining the innominate vein/superior vena cava (SVC). Inset shows single-shot fast spin echo image of the fetal lungs, demonstrating heterogeneity in the lung parenchyma with small cystic areas suspicious for pulmonary lymphangiectasia. DAo = descending aorta; t = trachea.

Figure 3

Fetal Echocardiography at 15 Weeks Gestation (Case 2) (A) Coronal view of the fetal chest (fetal head to the left of the image, feet to the right). (B) Three-dimensional color spatiotemporal image correlation image (posterior projection), acquired on a GE Voluson system equipped with an eM6C G3 matrix array probe, at 15 weeks of gestation in a subsequent pregnancy. There is infracardiac total anomalous pulmonary venous drainage with the confluence (C) draining via a descending vein (asterisk) to the portal system. L = left; R = right.

Figure 4

Segmentation From Motion-Corrected Slice to Volume Fetal Magnetic Resonance Imaging Data (Posterior Rightward Projection) in the Subsequent Pregnancy at 32 Weeks (Case 2) Four pulmonary veins drain to a single confluence (C), which drains via a descending vein (asterisk) to the portal system. AAo = ascending aorta; DAo = descending aorta; IVC = inferior vena cava; LA = left atrium; SVC = superior vena cava.