Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.
OBJECTIVE
To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT).


METHODS
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.
Curie
Aurore
A
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
Lesca
Gaëtan
G
Cottin
Vincent
V
Edery
Patrick
P
Bellon
Gabriel
G
Faughnan
Marie E
ME
Plauchu
Henri
H
D000293:Adolescent; D001165:Arteriovenous Malformations / Q000150:complications*; D001784:Blood Gas Analysis; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011651:Pulmonary Artery / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*