Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.
J Pediatr
; 151(3): 299-306, 2007 Sep.
Article
em En
| MEDLINE
| ID: mdl-17719943
ABSTRACT
OBJECTIVE:
To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT). STUDYDESIGN:
This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up.RESULTS:
Five children were under age 3 years when PAVM was diagnosed. Presentations included pulmonary symptoms (n = 8), cerebral abscess (n = 2), and transient ischemic attack (TIA) (n = 1); 1 patient was asymptomatic. Nine of the 12 children (75%) had a family history of PAVM. The diagnosis of HHT was confirmed in all cases. A mutation in ENG was found in 9 of the 10 children available for testing. No mutation in ACVRL1 was found. During long-term follow-up (mean, 16 years), the following complications occurred TIA (n = 2), hemoptysis (n = 2), and cerebral abscess (n = 2). Nine children experienced recurrence of PAVM. The children with no recurrence were those without a family history of PAVM.CONCLUSIONS:
The diagnosis of HHT should be considered in a child with an apparently isolated PAVM. Because serious complications may occur at any age, we recommend screening for PAVM and long-term follow-up in children from families with HHT, especially those with an ENG mutation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Malformações Arteriovenosas
/
Artéria Pulmonar
/
Veias Pulmonares
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Telangiectasia Hemorrágica Hereditária
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
França