Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler–Weber–Rendu syndrome

Daglar H. K., Kaymak D., CEYLANER S., Uysal N. Ş., SANHAL C. Y.

Journal of Clinical Ultrasound, vol.52, no.5, pp.658-663, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 52 Issue: 5
  • Publication Date: 2024
  • Doi Number: 10.1002/jcu.23681
  • Journal Name: Journal of Clinical Ultrasound
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Biotechnology Research Abstracts, CINAHL
  • Page Numbers: pp.658-663
  • Keywords: echocardiography, hereditary hemorrhagic telangiectasia, Osler–Weber–Rendu syndrome, prenatal diagnosis, pulmonary arteriovenous malformations
  • Akdeniz University Affiliated: Yes

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler–Weber–Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler–Weber–Rendu syndrome using autopsy and whole exom sequencing.