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

J Matern Fetal Neonatal Med. 2012 Aug;25(8):1494-8. doi: 10.3109/14767058.2011.629250. Epub 2011 Nov 7.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Cardiovascular Abnormalities / complications*
  • Cardiovascular Abnormalities / diagnosis
  • Cardiovascular Abnormalities / pathology
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / etiology*
  • Infant, Newborn, Diseases / pathology
  • Lung / abnormalities*
  • Lung / blood supply
  • Lung / pathology
  • Male
  • Pregnancy
  • Pulmonary Artery / abnormalities*
  • Pulmonary Artery / pathology
  • Pulmonary Veins / abnormalities*
  • Pulmonary Veins / pathology