Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Jun;52(5):658-663.
doi: 10.1002/jcu.23681. Epub 2024 Apr 2.

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

Halil Korkut Daglar  1 , Didem Kaymak  2 , Serdar Ceylaner  3 , Nihal Şahin Uysal  4 , Cem Yaşar Sanhal  5
Affiliations
Case Reports

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

Halil Korkut Daglar et al. J Clin Ultrasound. 2024 Jun.

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.

Keywords: Osler–Weber–Rendu syndrome; echocardiography; hereditary hemorrhagic telangiectasia; prenatal diagnosis; pulmonary arteriovenous malformations.

PubMed Disclaimer

Similar articles

See all similar articles

References

REFERENCES

    1. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010;24(6):203‐219. doi:10.1016/j.blre.2010.07.001
    1. McDonald J, Bayrak‐Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011;13(7):607‐616. doi:10.1097/GIM.0b013e3182136d32
    1. Preminger TJ, Perry SB, Burrows PE. Vascular anomalies. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP, eds. Heart disease in infants, children, and adolescents including the fetus and young adult. Williams and Wilkins; 1995:791‐810.
    1. Morrell NW. Screening for pulmonary arteriovenous malformations. Am J Respir Crit Care Med. 2004;169(9):978‐979. doi:10.1164/rccm.2402026
    1. Heling KS, Tennstedt C, Göldner B, Bollmann R. Prenatal diagnosis of intrapulmonary arteriovenous malformation: sonographic and pathomorphological findings. Ultrasound Obstet Gynecol. 2002;19(5):514‐517. doi:10.1046/j.1469‐0705.2002.00702.x

Publication types

MeSH terms

Supplementary concepts

LinkOut - more resources