Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.
J Clin Ultrasound
; 52(5): 658-663, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38563516
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arteriovenous Malformations
/
Pulmonary Artery
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Pulmonary Veins
/
Telangiectasia, Hereditary Hemorrhagic
/
Ultrasonography, Prenatal
Limits:
Adult
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Female
/
Humans
/
Newborn
/
Pregnancy
Language:
En
Journal:
J Clin Ultrasound
Year:
2024
Document type:
Article
Affiliation country:
Turquía