TY - JOUR
T1 - European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
AU - van de Laar, Ingrid M. B. H.
AU - Arbustini, Eloisa
AU - Loeys, Bart
AU - Björck, Erik
AU - Murphy, Lise
AU - Groenink, Maarten
AU - Kempers, Marlies
AU - Timmermans, Janneke
AU - Roos-Hesselink, Jolien
AU - Benke, Kalman
AU - Pepe, Guglielmina
AU - Mulder, Barbara
AU - Szabolcs, Zoltan
AU - Teixidó-Turà, Gisela
AU - Robert, Leema
AU - Emmanuel, Yaso
AU - Evangelista, Arturo
AU - Pini, Alessandro
AU - von Kodolitsch, Yskert
AU - Jondeau, Guillaume
AU - de Backer, Julie
PY - 2019
Y1 - 2019
N2 - The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 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 ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits.Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 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 ACTA2.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 ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.
AB - The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 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 ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits.Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 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 ACTA2.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 ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85075525365&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31752940
U2 - https://doi.org/10.1186/s13023-019-1186-2
DO - https://doi.org/10.1186/s13023-019-1186-2
M3 - Article
C2 - 31752940
SN - 1750-1172
VL - 14
SP - 264
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
ER -