Screening children for pulmonary arteriovenous malformations: Evaluation of 18 years of experience

• Published in: Pediatric pulmonology 2017-09, Vol.52 (9), p.1206-1211
• Main Authors: Hosman, Anna E., de Gussem, Els M., Balemans, Walter A. F., Gauthier, Andréanne, Westermann, Cees J. J., Snijder, Repke J., Post, Marco C., Mager, Johannes J.
• Format: Article
• Language: English
• Subjects: ACVRL1; Adolescent; Arteriovenous Fistula - diagnosis; Arteriovenous Fistula - diagnostic imaging; Arteriovenous Fistula - therapy; Arteriovenous Malformations - diagnosis; Arteriovenous Malformations - diagnostic imaging; Arteriovenous Malformations - therapy; Child; Child, Preschool; Echocardiography; Embolization, Therapeutic; endoglin; hereditary hemorrhagic telangiectasia; Humans; Infant; Mass Screening; Oximetry; pulmonary arteriovenous malformation; Pulmonary Artery - abnormalities; Pulmonary Artery - diagnostic imaging; Pulmonary Veins - abnormalities; Pulmonary Veins - diagnostic imaging; Radiography; Telangiectasia, Hereditary Hemorrhagic - diagnosis; Telangiectasia, Hereditary Hemorrhagic - diagnostic imaging; Telangiectasia, Hereditary Hemorrhagic - therapy; vascular disease
• ISSN: 8755-6863; 1099-0496
• DOI: 10.1002/ppul.23704

Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease with multi‐systemic vascular dysplasia. Early diagnosis through screening is important to prevent serious complications. How best to screen children of affected parents for pulmonary arteriovenous malformations (PAVMs) is often subject to debate. Transthoracic contrast echocardiogram (TTCE) is considered optimal in screening for PAVMs in adults. Guidelines for the screening of children are not specific, reflecting the lack of scientific evidence on the best method to use. Objective Aims of this study are (i) to evaluate our current screening method, consisting of history, physical examination, pulse oximetry, and chest radiography and (ii) to assess whether postponing more invasive screening for PAVMs until adulthood is safe. Methods This is a prospective observational cohort study using a patient database. Results Over a period of 18 years (mean follow‐up 9.21 years, SD 4.72 years), 436 children from HHT families were screened consecutively. A total of 175/436 (40%) children had a diagnosis of HHT. PAVMs were detected in 39/175 (22%) children, 33/39 requiring treatment by embolotherapy. None of the screened children suffered any PAVM‐associated complications with this screening method. Conclusion This study shows that a conservative screening method during childhood is sufficient to detect large PAVMs and protect children with HHT for PAVM‐related complications. Postponing TTCE and subsequent chest CT scanning until adulthood to detect any smaller PAVMs does not appear to be associated with major risk.