AI Article Synopsis
- Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare disease characterized by multiple arteriovenous malformations (AVM) and severe hypoxia.
- A case study of a 49-year-old man with both cardiac and pulmonary HHT suggests potential complications like pulmonary embolism due to AVM.
- This situation highlights the need for careful interpretation of ventilation and perfusion (V/Q) scans to avoid misdiagnosis, emphasizing the importance of collaboration among clinical, anatomical, and functional evaluations.
Article Abstract
Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia (HHT) is a rare systemic disease. Its primary pathogenic expression is multiple arteriovenous malformations (AVM) and severe hypoxia. A case of suspected pulmonary embolism in a 49-year-old male with intestinal, cardiac, and pulmonary HHT affection is reported. Pulmonary AVM could create an apparent mismatch perfusion defect evident upon ventilation and perfusion scan (V/Q scan), leading to misinterpretation. It reinforces the importance between clinics, anatomy, and functional evaluation. Care must be taken when interpreting V/Q scan and the reporting physician must be alert to the possible sources of errors.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686737 | PMC |
| http://dx.doi.org/10.4103/wjnm.wjnm_48_21 | DOI Listing |
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