Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia)

J Matern Fetal Neonatal Med. 2018 Jul;31(13):1768-1776. doi: 10.1080/14767058.2017.1326905. Epub 2017 Jun 13.

Abstract

The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.

Keywords: Ehlers–Danlos syndrome; Marfan syndrome; Mesenchymal dysplasias; hereditary hemorrhagic telangiectasia; pregnancy.

MeSH terms

  • Aortic Aneurysm / etiology
  • Aortic Dissection / etiology
  • Cesarean Section
  • Ehlers-Danlos Syndrome / complications
  • Ehlers-Danlos Syndrome / diagnosis*
  • Female
  • Humans
  • Marfan Syndrome / complications
  • Marfan Syndrome / diagnosis*
  • Pregnancy
  • Pregnancy Complications / diagnosis*
  • Pregnancy, High-Risk*
  • Prenatal Care
  • Telangiectasia, Hereditary Hemorrhagic / complications
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis*