Rare Cause of Pulmonary Hypertension in Newborn: Vein of Galen Aneurysmal Malformation

Abstract

Introduction

Pulmonary hypertension is a life-threatening condition in newborns. While common causes include meconium aspiration, sepsis, and congenital diaphragmatic hernia, rare etiologies such as cerebral vascular malformations must be considered, particularly when standard therapies fail. Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly that can lead to high-output cardiac failure and pulmonary hypertension due to increased cerebral blood flow. This malformation is caused by a direct arteriovenous fistula between choroidal arteries and the embryonic median prosencephalic vein of Markowski (the precursor to the vein of Galen). There are two major anatomic subtypes: the choroidal type and the mural type. Mortality is especially high during the neonatal period. Without intervention, over 90% of these infants progress rapidly to multiple organ failure.

Method

Here, we report the case of a 2-day-old female newborn presenting with severe pulmonary hypertension refractory to medical management with high output heart failure, ultimately diagnosed with a choroidal-type VOGM.

Results

A full-term female newborn was delivered via cesarean section to a diabetic mother. She exhibited tachypnea and mild desaturation. Physical examination revealed prominent jugular venous pulsations, and hepatomegaly. Chest radiography showed significant cardiomegaly. Transthoracic echocardiography revealed a structurally normal heart with dilated right-sided cavities (Figure 1a), isosystematic pulmonary arterial hypertension, diastolic reversal flow in the proximal descending thoracic aorta (Figure 1b) and Continuous and prominent carotid flow with prominent superior vena cava flow. A cerebral vascular malformation was highly suspected. Subsequent computed tomography (CT) (Figure 1c) angiography and magnetic resonance imaging (MRI) confirmed a choiroidal -type vein of Galen malformation with significant arteriovenous shunting. Given the poor hemodynamic tolerance and the presence of isosystemic PH with a bicetre scale score of 12, emergent embolization was decided. A femoral arterial approach was performed, with embolization of three branches of the right and left posterolateral choroidal arteries, achieving occlusion of the shunts (Figure 1d).

Conclusion

PPHN in VOGM is a rare presentation and can be challenging to diagnose and to treat. This case underscore the importance of considering cerebral vascular anomalies in neonates with hig cardiac output heart failure and refractory pulmonary hypertension.