Pulmonary arteriovenous malformations (PAVMs) occur in 30% to 50% of patients with hereditary hemorrhagic telangiectasia. Clinical presentations vary from asymptomatic disease to complications resulting from the right to left shunting of blood through the PAVM such as paradoxical stroke, brain abscesses, hypoxemia, and cardiac failure. Radiology plays an important role both in the diagnosis and treatment of PAVM. Based on different clinical scenarios, the appropriate imaging study has been reviewed and is presented in this document. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.
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http://dx.doi.org/10.1016/j.jacr.2024.02.028 | DOI Listing |
Acta Neurol Belg
January 2025
Intensive Care Department, Cliniques Universitaire Saint-Luc (CUSL), Université Catholique de Louvain (UCL), Brussels, Belgium.
Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare vascular disorder characterized by arteriovenous malformations (AVMs) in various organs, including the lungs. Pulmonary AVMs (PAVMs) are especially worrisome due to their potential to form right-to-left shunts, resulting in life-threatening complications such as paradoxical embolism and stroke . We present a case of fatal air embolism in a young patient with a known history of HHT and recurring hemoptysis.
View Article and Find Full Text PDFIndian J Thorac Cardiovasc Surg
February 2025
Sechenov First Moscow State Medical University, Moscow, Russia.
Pulmonary arteriovenous malformation (PAVM) is a congenital vascular pathology, which is caused by the presence of a direct connection between the branches of the artery and the veins of the lungs, and the discharge of unoxygenated blood into the arterial bed. Arteriovenous malformations are characterized by a wide variety of clinical manifestations and, in some cases, may be accompanied with severe circulatory disorders.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Pulmonology, St. Antonius Hospital, Nieuwegein, the Netherlands.
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.
View Article and Find Full Text PDFNat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFPulm Circ
January 2025
National Heart and Lung Institute, Imperial College London UK.
Pulmonary arteriovenous malformations (PAVMs) cause cerebral abscess and ischemic stroke due to paradoxical emboli, risks that are increasingly recognized. We report the evolving placement of thoracic surgery in multi-disciplinary team management of PAVMs that were sporadic or associated with hereditary hemorrhagic telangiectasia. From 1983 to 2006, all patients receiving elective treatment had embolization.
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