Early neonatal complications from pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: case report and review of the literature

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a rare but life-threatening disease characterized by multi system telangiectasias and arteriovenous malformations (AVM). Complications in adults have been reported extensively, but neonatal (NN) complications have only been published in incidental case reports. In this paper, we present a literature review on NN pulmonary AVM related to HHT, following our own experience with a NN death due to this disease. As prenatal diagnosis of pulmonary AVM is feasible, we recommend that a family history of HHT should be an indication for expertise prenatal anomaly scanning, in order to organise optimal NN support at birth.

Giant Neonatal Pulmonary Arteriovenous Malformation: An Imaging and Management Challenge

“…Since then there have been six additional reports of neonatal PAVMs. 3,4,[6][7][8][9] As in this case, the most pronounced feature of neonatal presentations is cyanosis that is unresponsive to supplemental oxygen and mechanical ventilation. Other respiratory symptoms include tachypnea and respiratory distress.…”

“…2 Neonatal presentations of PAVMs are rare, but mortality rates in this period are very high, reported in the 30% to 40% range, especially in the context of HHT. 3,4 Grady et al 5 reported 11 neonatal cases of PAVMs presenting in infancy. Since then there have been six additional reports of neonatal PAVMs.…”

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis

“…The present case provides further evidence that cerebral AVM might be a prenatal presentation of HHT. A review of the literature has shown that few cases are diagnosed in children and newborns (Chida et al, 2013 and Tsutsumi et al, 2011) and that diagnosis is even rarer in prenatal life, due to the presence of hepatic AVMs (Gludovacz et al, 2012; Saleh, Miron, Al‐Rukban, Chitayat, & Nezarati, 2016). To the best of our knowledge, VOGM has never been reported as a prenatal manifestation of HHT.…”

Transcatheter occlusion of large pulmonary arteriovenous malformations using multiple devices in a neonate

“…Though rare, neonates that are symptomatic due to PAVMs can be critically ill, as in our case, presenting with profound cyanosis and dyspnea, as well as congestive heart failure or lung hemorrhage. Mortality is high, up to 39% in the first week of life; 33% of these infants were suspected to have HHT .…”