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Screening children for pulmonary arteriovenous malformations: Evaluation of 18 years of experience
Author(s) -
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.
Publication year - 2017
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23704
Subject(s) - medicine , telangiectasia , pediatrics , cohort , physical examination , prospective cohort study , observational study , bronchopulmonary dysplasia , radiology , surgery , pregnancy , genetics , biology , gestational age
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.