Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases

• Published in: The Journal of pediatrics 2007-09, Vol.151 (3), p.299-306
• Main Authors: Curie, Aurore, MD, Lesca, Gaëtan, MD, Cottin, Vincent, MD, PhD, Edery, Patrick, MD, PhD, Bellon, Gabriel, MD, PhD, Faughnan, Marie E., MD, MSc, Plauchu, Henri, MD, PhD
• Format: Article
• Language: English
• Subjects: Adolescent; Arteriovenous Malformations - complications; Biological and medical sciences; Blood Gas Analysis; Cardiology. Vascular system; Child; Child, Preschool; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; DNA Mutational Analysis; Female; Follow-Up Studies; General aspects; Heart; Hematologic and hematopoietic diseases; Human health and pathology; Humans; Infant; Infant, Newborn; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Life Sciences; Male; Medical sciences; Pediatrics; Pulmonary Artery - abnormalities; Pulmonary Veins - abnormalities; Telangiectasia, Hereditary Hemorrhagic - complications
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2007.03.021

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.