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
em 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Malformações Arteriovenosas
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Artéria Pulmonar
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Veias Pulmonares
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Telangiectasia Hemorrágica Hereditária
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Ultrassonografia Pré-Natal
Limite:
Adult
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Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Revista:
J Clin Ultrasound
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Turquia