Pulmonary arteriovenous malformations leading to hypoxemia in child with primary ciliary dyskinesia

Area of Science:

• Pulmonology
• Genetics
• Pediatrics

Background:

• Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting respiratory function, leading to chronic infections and potential complications like bronchiectasis.
• Hypoxemia in PCD is often attributed to bronchiectasis, potentially masking other underlying causes.
• Pulmonary arteriovenous malformations (PAVMs) are not a commonly recognized association with PCD.

Observation:

• A child diagnosed with PCD presented with significant hypoxemia.
• The hypoxemia was present despite the absence of significant bronchiectasis.
• Extensive, bilateral PAVMs were identified as the cause of hypoxemia.

Findings:

• This case demonstrates a previously unrecognized association between PCD and diffuse bilateral PAVMs.
• PAVMs can be a significant cause of hypoxemia in PCD patients.
• The presence of PAVMs may be overlooked in PCD due to a lack of awareness.

Implications:

• This finding suggests that PAVMs should be considered in the differential diagnosis of hypoxemia in PCD patients, even without typical bronchiectasis.
• Further research into the physiopathologic mechanisms linking PCD and PAVMs is warranted.
• Increased awareness of this association may lead to earlier diagnosis and improved management of hypoxemia in PCD.