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Pathogenic variants in the<jats:italic>ACTA2<\/jats:italic>gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic aneurysm and\/or dissection is the main clinical manifestation, a variety of occlusive vascular disease and extravascular manifestations occur in<jats:italic>ACTA2<\/jats:italic>-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits.<\/jats:p><jats:p>Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in<jats:italic>ACTA2<\/jats:italic>have not yet been established. We aimed to develop a consensus document to provide medical guidance for health care professionals involved in the diagnosis and treatment of patients and relatives with pathogenic variants in<jats:italic>ACTA2<\/jats:italic>.<\/jats:p><jats:p>The HTAD Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) convened to review current literature and discuss expert opinions on clinical management of<jats:italic>ACTA2<\/jats:italic>related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with<jats:italic>ACTA2-<\/jats:italic>related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.<\/jats:p>","DOI":"10.1186\/s13023-019-1186-2","type":"journal-article","created":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T15:00:34Z","timestamp":1576508434000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants"],"prefix":"10.1186","volume":"14","author":[{"given":"Ingrid M. B. 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