Conservative Pulmonary Arteriovenous Malformation Screening in Children: Re-Evaluation of Safety

Abstract

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In adults, transthoracic contrast echocardiogram (TTCE) is used to screen PAVMs. In children, a conservative screening method seems to be sufficient to rule out major PAVMs and prevent them from PAVM-related complications. This study reevaluates the conservative noninvasive screening method using a larger cohort of children screened for HHT. Methods: This single-center observational cohort study includes children screened between December 1998 and December 2022. The screening consisted of medical history, physical examination, pulse oximetry, and chest radiography. Data regarding screening, PAVM presence and complications (including transient ischemic attack, stroke, brain abscess and hemoptysis) were collected using the Dutch HHT-patient database. Results: In total, 600 children, mean age 9.9 years (SD 4.3) were screened for the presence of PAVMs. None of the 600 children screened suffered any PAVM-related complications after a total of 7102 years of patient follow-up (251 children [42%] with a definite HHT-diagnosis, accounting for 3232 years of follow-up). In 32 patients (13% of children with HHT), a treatable PAVM was found during childhood. Conclusion: This study confirms that a conservative PAVM screening method in children is safe to prevent complications related to PAVMs. Small PAVMs will be missed using this conservative approach, but without an increased risk of complications.