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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. / van de Laar, Ingrid M B H; Arbustini, Eloisa; Loeys, Bart; Björck, Erik; Murphy, Lise; Groenink, Maarten; Kempers, Marlies; Timmermans, Janneke; Roos-Hesselink, Jolien; Benke, Kalman; Pepe, Guglielmina; Mulder, Barbara; Szabolcs, Zoltan; Teixidó-Turà, Gisela; Robert, Leema; Emmanuel, Yaso; Evangelista, Arturo; Pini, Alessandro; von Kodolitsch, Yskert; Jondeau, Guillaume; De Backer, Julie.

in: ORPHANET J RARE DIS, Jahrgang 14, Nr. 1, 21.11.2019, S. 264.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

van de Laar, IMBH, Arbustini, E, Loeys, B, Björck, E, Murphy, L, Groenink, M, Kempers, M, Timmermans, J, Roos-Hesselink, J, Benke, K, Pepe, G, Mulder, B, Szabolcs, Z, Teixidó-Turà, G, Robert, L, Emmanuel, Y, Evangelista, A, Pini, A, von Kodolitsch, Y, Jondeau, G & De Backer, J 2019, 'European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants', ORPHANET J RARE DIS, Jg. 14, Nr. 1, S. 264. https://doi.org/10.1186/s13023-019-1186-2

APA

van de Laar, I. M. B. H., Arbustini, E., Loeys, B., Björck, E., Murphy, L., Groenink, M., Kempers, M., Timmermans, J., Roos-Hesselink, J., Benke, K., Pepe, G., Mulder, B., Szabolcs, Z., Teixidó-Turà, G., Robert, L., Emmanuel, Y., Evangelista, A., Pini, A., von Kodolitsch, Y., ... De Backer, J. (2019). European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. ORPHANET J RARE DIS, 14(1), 264. https://doi.org/10.1186/s13023-019-1186-2

Vancouver

van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M et al. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. ORPHANET J RARE DIS. 2019 Nov 21;14(1):264. https://doi.org/10.1186/s13023-019-1186-2

Bibtex

@article{5700c18d0af94edeb9d3825f62cfa140,
title = "European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants",
abstract = "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.",
keywords = "Actins/genetics, Aortic Aneurysm, Thoracic/genetics, Aortic Diseases/genetics, Consensus, Europe, Female, Humans, Life Style, Mutation/genetics, Pregnancy, Rare Diseases/genetics, Risk Factors",
author = "{van de Laar}, {Ingrid M B H} and Eloisa Arbustini and Bart Loeys and Erik Bj{\"o}rck and Lise Murphy and Maarten Groenink and Marlies Kempers and Janneke Timmermans and Jolien Roos-Hesselink and Kalman Benke and Guglielmina Pepe and Barbara Mulder and Zoltan Szabolcs and Gisela Teixid{\'o}-Tur{\`a} and Leema Robert and Yaso Emmanuel and Arturo Evangelista and Alessandro Pini and {von Kodolitsch}, Yskert and Guillaume Jondeau and {De Backer}, Julie",
year = "2019",
month = nov,
day = "21",
doi = "10.1186/s13023-019-1186-2",
language = "English",
volume = "14",
pages = "264",
journal = "ORPHANET J RARE DIS",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

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 - 2019/11/21

Y1 - 2019/11/21

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.

KW - Actins/genetics

KW - Aortic Aneurysm, Thoracic/genetics

KW - Aortic Diseases/genetics

KW - Consensus

KW - Europe

KW - Female

KW - Humans

KW - Life Style

KW - Mutation/genetics

KW - Pregnancy

KW - Rare Diseases/genetics

KW - Risk Factors

U2 - 10.1186/s13023-019-1186-2

DO - 10.1186/s13023-019-1186-2

M3 - SCORING: Journal article

C2 - 31752940

VL - 14

SP - 264

JO - ORPHANET J RARE DIS

JF - ORPHANET J RARE DIS

SN - 1750-1172

IS - 1

ER -