Prenatal presentation of hereditary hemorrhagic telangiectasia – a report of two sibs

Abstract

What's Already Known About This Topic? There are no publications linking prenatally detected hepatic arteriovenous malformations (AVM) with the diagnosis of hereditary hemorrhagic telangiectasia (HHT). To date only one case series reported symptomatic neonatal hepatic AVMs, none of which were detected prenatally. What Does This Study Add? We report two siblings with molecularly confirmed HHT who presented with symptomatic hepatic AVMs, one of which was detected prenatally. This report suggests that prenatal or neonatal hepatic AVMs merit evaluation for HHT.

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.…”

Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

“…The improvement of methods to detect prenatal malformations led to the diagnosis of HHT even in utero, although only in exceptional cases; Saleh et al [ 48 ] reported the diagnosis of liver AVM with fetal magnetic resonance imaging (MRI), following ultrasound (US) evidence of cardiomegaly at 32 weeks of pregnancy, and De Luca et al [ 49 ] reported on the presence of a huge malformation of the vein of Galen associated with ventriculomegaly detected with US at 26 weeks, then confirmed with MRI.…”

“…In the aftermath of US/MRI diagnosis in both patients, molecular evidence was obtained for mutations in ENG and ACVRL1 respectively. It is regrettable to note that in both cases, familial evidence for HHT was already available [ 49 ] or could have been easily obtained [ 48 ] following the Curaçao criteria, but this evidence did not prompt any genetic counselling about the disease in general, nor any advice to the families about the possibility of observing complications of the disease even in children.…”

“…Prenatal presentation of HHT is possible in cases of severe anatomical abnormalities [ 48 , 49 ], so, in general, any pregnancy in which the fetus is at risk for having inherited the disease should be accurately monitored with repeated US examinations. Our group was involved in genetic testing (unpublished data) after abortion of a fetus because of severe cerebral hemorrhage at the 18th week; no autopsy was performed, but on a sample of fetal tissue, the familial mutation was confirmed.…”