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J Pediatr. 2007 Sep;151(3):299-306. Epub 2007 Jul 25.

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.

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1
Department of Clinical Genetics and National Reference Centre of Rendu-Osler Disease, Hôtel-Dieu Hospital, Civil Hospices of Lyon, University of Claude-Bernard Lyon 1, France. aurorecurie@yahoo.fr

Abstract

OBJECTIVE:

To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT).

STUDY DESIGN:

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.

PMID:
17719943
DOI:
10.1016/j.jpeds.2007.03.021
[Indexed for MEDLINE]
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