Abstract
Hereditary hemorrhagic telangiectasia is complicated by the presence of pulmonary AVMs in approximately 40 % of cases. Current guidelines recommend screening all HHT patients for pulmonary AVMs, with transthoracic contrast echocardiography, followed by CT chest in echo-positive patients. Preventative treatment of pulmonary AVMs is recommended. We review here the clinical presentations of pulmonary AVMs, the complications and the role for preventative embolization and other precautions.
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Abbreviations
- ACVRL1:
-
Activin-A type II like kinase 1
- AVM:
-
Arteriovenous malformation
- BMP-9:
-
Bone morphogenetic protein
- BMPR2:
-
BMP type II receptor
- Eng:
-
Endoglin
- HHT:
-
Hereditary Hemorrhagic Telangiectasia
- HOCF:
-
High-output cardiac failure
- PAH:
-
Pulmonary arterial hypertension
- PH:
-
Pulmonary hypertension
- TGFBR2:
-
TGF-ß type II receptor
- TGF-ß:
-
Transforming growth factor ß
- VEGF:
-
Vascular endothelial growth factor
- VM:
-
Vascular malformation
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de Gussem, E.M., Faughnan, M.E. (2015). Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia. In: Cottin, V., Cordier, JF., Richeldi, L. (eds) Orphan Lung Diseases. Springer, London. https://doi.org/10.1007/978-1-4471-2401-6_12
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