French national reference center for rare vascular diseases
The reference center for rare vascular diseases (CRMVR) is coordinated by Pr Tristan Mirault at the Georges-Pompidou European hospital.
The CRMVR continues to develop the care sector for rare vascular diseases, in particular for medium-sized arteries. It has expertise in vascular Ehlers-Danlos syndrome, fibromuscular dysplasia, thromboangiitis obliterans (or Buerger disease), aortic disease including Takayasu arteritis, familial bicuspid aortic valve and also superficial vascular malformations and primary lymphedema.
The CRMVR coordinates the activity of care, comprehensive care and epidemiological, clinical and fundamental research in connection with 3 constituent sites and 16 competence centers spread throughout the country.
The management of primary lymphedemas is ensured by 2 constituent centers. These are the lymphology department of Dr Stéphane Vignes at the Cognacq-Jay hospital (75015 PARIS), and the vascular medicine department of Pr Isabelle Quere at the Montpellier University hospital. For superficial vascular malformations, the constitutive site is located in the neuroradiology department at the Lariboisière hospital directed by Dr Annouk Bisdorff-Bresson.
This reference center is affiliated with the FAVA-MULTI rare diseases healthcare network and the VascERN European reference networks (ERN).
Keywords : Vascular Ehlers-Danlos syndrome, COL3A1, Takayasu arteritis, fibromuscular dysplasia, familial bicuspid aortic valve, thromboangiitis obliterans, Buerger disease, vascular malformations, primary lymphedema, celiprolol, immunosuppressant, biotherapies, MRI, scanner, Doppler ultrasound, angioplasty, arterial hypertension.
Medical team
Pr Tristan Mirault
MD, PhD
Contact us
Phone. +33 1 56 09 50 41
Attach a consultation or hospitalization report justifying the request as well as the results of the examinations already carried out.
In case of emergency
The missions of the centre are to organise screening and care for patients (and their relatives where appropriate) with rare vascular diseases.
These diseases include :
- Medium-sized arteries : vascular Ehlers-Danlos syndrome, fibromuscular dysplasia, thromboangiitis obliterans
- Aortic disease including Takayasu arteritis
- Familial bicuspid aortic valve
- Superficial vascular malformations (Lariboisière hospital)
- Primary lymphedema (Cognacq-Jay hospital and Montpellier university hospital)
The CRMVR organises a national « medium-sized artery » multidisciplinary consultation meeting (MCM) every month. This meeting is an opportunity to present family files within the framework of the France Genomics 2025 plan (whole genome), but also to discuss patients’ cases for an opinion with colleagues from the CRMVR network.
Vascular Ehlers-Danlos syndrome
Takayasu disease
Buerger disease
Arterial fibromuscular dysplasia
Familial bicuspid aortic valve
Primary lymphedema
The CRMVR coordinating site consists of :
- a team of clinicians specialised in vascular medicine and more particularly in rare vascular diseases :
- Pr Tristan Mirault : coordinator of the CRMVR, referent for aortic diseases including Takayasu arteritis and thromboangiitis obliterans,
- Dr Michael Frank : referent for vascular Ehlers-Danlos syndrome,
- Dr Boris Oehmichen : referent for vascular Ehlers-Danlos syndrome,
- Dr Aurélien Lorthior : referent for fibromuscular dysplasia,
- Dr Roxane Gaisset : referent for fibromuscular dysplasia,
- Dr Nicolas Denarié : referent for vascular explorations (Doppler-ultrasound),
- Dr Charles Cheng : referent for bicuspidism,
- specialists in molecular genetics :
- Pr Xavier Jeunemaître : head of the genetics department,
- Dr Clarisse Billon : university hospital assistant,
- a liaison psychiatric team :
- Dr Khadija Lahlou-Laforet : psychiatrist,
- Sixtine Nicolas : psychologist,
- a dedicated secretariat :
- Naima Habas : medico-administrative assistant of the CRMVR,
- diagnostic and interventional vascular radiology associated teams :
- Pr Elie Mousseaux,
- Pr Marc Sapoval,
- vascular surgery :
- Pr Pierre Julia,
- Pr Jean-Marc Alsac,
- digestive surgery :
- Pr Mehdi Karoui,
- Dr Gilles Manceau,
- anatomopathology :
- Pr Patrick Bruneval,
- arterial hypertension :
- Pr Michel Azizi,
- Pr Laurence Amar : responsible for the hypertension unit.
Pr Tristan Mirault
MD, PhD
Dr Michaël Frank
MD
Dr Aurélien Lorthioir
MD
Dr Boris Oehmichen
MD
Dr Nicolas Denarié
MD
Dr Charles Cheng
MD
Pr Xavier Jeunemaître
MD, PhD
Dr Khadija Lalou-Laforet
MD
Dr Clarisse Billon
MD
- Vascular Ehlers-Danlos syndrome TPE – Under development
- Superficial arteriovenous malformations PNDS (2021)
- Takayasu arteritis PNDS (2020)
- Primary lymphedema PNDS (2019)
- Vascular Ehlers-Danlos syndrome (Ongoing)
- ARCADE (Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome) : PHRC national, NCT02597361 – En cours
- RADICO SEDvasc (INSERM) : ANR, action « Cohortes » du 1er programme d’investissements d’avenir, 500 patients inclus – En cours
- IRM BAO : Evaluation of Aortic Stiffness as a Prognostic Indicator of Aortic Dilatation in Patients With Bicuspid Aortic Valve (BAV)
by Multimodal Imaging (MRI, Echocardiography and Ultrafast Ultrasound Imaging) (bourse SFC, promotion SFC) – En cours - REPERE (Retentissement Professionnel, Psychologique, et de l’ERrance diagnostique dans le Syndrome d’Ehlers-Danlos
vasculaire) : Appel à projets de l’AFSED (association française des syndromes d’Ehlers-Danlos) – En cours - INTOReTAK (Multicentre, randomized, prospective trial comparing the efficacy and safety of INfliximab and TOcilizumab in
Refractory/relapsing TAKayasu arteritis) : PHRC national – En cours - Modèle de souris SED Vasculaire : Appel à projets de l’ASFED sur les syndromes d’Ehlers-Danlos – En cours
- Identification de nouveaux gènes et axes thérapeutiques dans 2 maladies artérielles héréditaires rares : Appel à projet annuel
« Equipe FRM » de la Fondation pour la Recherche Médicale – En cours - Genetic study of FMD : ANR Jeune Chercheur, ERC Starting Grant – En cours
- TAK-UF : Takayasu Arteritis Activity Evaluation by Ultrafast Ultrasound Imaging (bourse SFC, promotion SFC) – En cours
2021
– Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene.
Piotr Zieminski, Jessie Risse, Anne Legrand, Virginie Dufrost, Laurence Bal, Nicla Settembre, Sergueï Malikov, Xavier Jeunemaitre, Denis Wahl, Stéphane Zuily
Acta Cardiol, 2021 Jul, PMID: 32746767 DOI: 10.1080/00015385.2020.1802904
– National French Registry of Spontaneous Coronary Artery Dissections: Prevalence of Fibromuscular Dysplasia and Genetic Analyses.
Nicolas Combaret, Edouard Gerbaud, François Dérimay, Geraud Souteyrand, Lucie Cassagnes, Sara Bouajila, Takiy Berrandou, Gregoire Rangé, Nicolas Meneveau, Brahim Harbaoui, Benoit Lattuca, Nabila Bouatia-Naji, Pascal Motreff
EuroIntervention, 2021 Aug 27, PMID: 33319763 DOI: 10.4244/EIJ-D-20-01046
– Renal Outcome and New-Onset Renal and Extrarenal Dissections in Patients With Nontrauma Renal Artery Dissection Associated With Renal Infarction.
Anne-Laure Faucon, Guillaume Bobrie, Arshid Azarin, Elie Mousseaux, Tristan Mirault, Aurélien Lorthioir, Michel Azizi, Laurence Amar
Hypertension, 2021 Jul, PMID: 33966454 DOI: 10.1161/HYPERTENSIONAHA.120.16540
– Multiple peripheral arterial pseudoaneurysms associated with vascular tuberculosis.
Y Ed Demri, G Goudot, C Del Giudice, N Mohamedi, L Khider, G Détriché, A Durivage, P Bruneval, E Messas, T Mirault
J Med Vasc, 2021 Feb, PMID: 33546821 DOI: 10.1016/j.jdmv.2020.10.126
– Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.
Adrien Georges, Min-Lee Yang, Takiy-Eddine Berrandou, Mark K Bakker, Ozan Dikilitas, Soto Romuald Kiando, Lijiang Ma, Benjamin A Satterfield, Sebanti Sengupta et al.
Nat Commun, 2021 Oct 15, PMID: 34654805 PMCID: PMC8521585 DOI: 10.1038/s41467-021-26174-2
– Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome: A Cohort Study.
Salma Adham, Clarisse Billon, Anne Legrand, Valérie Domigo, Nicolas Denarié, Etienne Charpentier, Xavier Jeunemaitre, Michael Frank
Stroke, 2021 May, PMID: 33641388 DOI: 10.1161/STROKEAHA.120.032106
– Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale
Orphanet J Rare Dis, 2021 Dec 4, PMID: 34863227 PMCID: PMC8642866 DOI: 10.1186/s13023-021-02128-1
– Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
A Legrand, C Pujol, C M Durand, A Mesnil, I Rubera, C Duranton S Zuily, A B Sousa, M Renaud, J L Boucher, N Pietrancosta, S Adham, C Orssaud, C Marelli, C Casali, L Ziccardi
J Intern Med, 2021 May, PMID: 33107650 DOI: 10.1111/joim.13193
– Male Sex Is Associated With Cervical Artery Dissection in Patients With Fibromuscular Dysplasia.
Charlotte Arnaud, Marion Boulanger, Aurélien Lorthioir, Laurence Amar, Arshid Azarine, Louis Boyer, Gilles Chatellier, Silvia Di Monaco, Xavier Jeunemaitre, Adrian Kastler, Elie Mousseaux, Catherine Oppenheim, Frédéric Thony, Alexandre Persu, Jeffrey W Olin, Michel Azizi, Emmanuel Touzé, ARCADIA Co‐investigators
J Am Heart Assoc, 2021 Jun, PMID: 33998257 PMCID: PMC8483547 DOI: 10.1161/JAHA.120.018311
– French recommendations for the management of Takayasu »s arteritis.
David Saadoun, Alessandra Bura-Riviere, Chloé Comarmond, Marc Lambert, Alban Redheuil, Tristan Mirault, Collaborators
Orphanet J Rare Dis, 2021 Jul 21, PMID: 34284801 PMCID: PMC8293493 DOI: 10.1186/s13023-021-01922-1
– Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.
Adrien Georges, Min-Lee Yang, Takiy-Eddine Berrandou, Mark K Bakker, Ozan Dikilitas, Soto Romuald Kiando, Lijiang Ma, Benjamin A Satterfield, Sebanti Sengupta, Mengyao Yu, Jean-François Deleuze et al.
Nat Commun, 2021 Oct 15, PMID: 34654805 PMCID: PMC8521585 DOI: 10.1038/s41467-021-26174-2
– Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Adrien Georges, Juliette Albuisson, Takiy Berrandou, Délia Dupré, Aurélien Lorthioir, Valentina D’Escamard, Antonio F Di Narzo, Daniella Kadian-Dodov, Jeffrey W Olin, Ewa Warchol-Celinska, Aleksander Prejbisz, Andrzej Januszewicz, Patrick Bruneval et al.
Cardiovasc Res, 2021 Mar 21, PMID: 32531060 PMCID: PMC7983006 DOI: 10.1093/cvr/cvaa161
– The European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI)-clinical phenotypes and their predictors based on a cohort of 1000 patients.
Marco Pappaccogli, Silvia Di Monaco, Ewa Warchoł-Celińska, Aurélien Lorthioir, Laurence Amar, Lucas S Aparicio, Christophe Beauloye, Rosa Maria Bruno, Patrick Chenu et al.
Cardiovasc Res, 2021 Feb 22, PMID: 32282921 DOI: 10.1093/cvr/cvaa102
2020
– Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
Salma Adham, Sophie Dupuis-Girod, Etienne Charpentier, Jean-Michaël Mazzella, Xavier Jeunemaitre, Anne Legrand
Clin Genet, 2020 Feb, PMID: 31531849 DOI: 10.1111/cge.13643
– Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic.
Jean-Michaël Mazzella, Salma Adham, Michael Frank, Anne Legrand, Khadija Lahlou-Laforêt, Xavier Jeunemaitre
J Genet Couns, 2020 Oct, PMID: 31903687 DOI: 10.1002/jgc4.1211
– Aortic Dissection in an Undiagnosed Familial Form of Bicuspid Aortic Valve with a Short Raphe.
Ryan Hautin, Tristan Mirault, Laura Munte, Paul Achouh, Lina Khider, Emmanuel Messas, Guillaume Goudot
CASE (Phila), 2020 Aug 20, PMID: 33117946 PMCID: PMC7581640 DOI: 10.1016/j.case.2020.07.006
– Genetic Study of PHACTR1 and Fibromuscular Dysplasia, Meta-Analysis and Effects on Clinical Features of Patients: The ARCADIA-POL Study.
Ewa Warchol-Celinska, Takiy Berrandou, Aleksander Prejbisz, Adrien Georges, Delia Dupré, Magdalena Januszewicz, Elzbieta Florczak, Katarzyna Jozwik-Plebanek, Piotr Dobrowolski, Witold Smigielski, Wojciech Drygas, Jacek Kadziela, Adam Witkowski, Marek Kabat, Malgorzata Szczerbo-Trojanowska, Marco Pappaccogli, Alexandre Persu, Xavier Jeunemaitre, Andrzej Januszewicz, Nabila Bouatia-Naji
Hypertension, 2020 Jul, PMID: 32475314 DOI: 10.1161/HYPERTENSIONAHA.120.14793
2019
– Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: a Retrospective Review.
Adham, S ; Zinzindohoué, F ; Jeunemaitre, X ; Frank, M
Dis Colon Rectum, 2019 Jul, PMID: 31188187 DOI: 10.1097/DCR.0000000000001383
– Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.
Frank, M ; Adham, S ; Seigle, S ; Legrand, A ; Mirault, T ; Henneton, P & al
J Am Coll Cardiol, 2019 Apr 23, PMID: 30999998 DOI: 10.1016/j.jacc.2019.01.058
– Segmental aortic stiffness in patients with bicuspid aortic valve compared with first-degree relatives.
Goudot, G ; Mirault, T ; Rossi, A ; Zarka, S ; Albuisson, J ; Achouh, P & al
Heart, 2019 Jan, PMID: 30077994 DOI: 10.1136/heartjnl-2018-313232
– Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models.
Goudot, G ; Papadacci, C ; Dizier, B ; Baudrie, V ; Ferreira, I ; Boisson-Vidal, C & al
Ultraschall Med, 2019 Dec, PMID: 30241104 DOI: 10.1055/a-0599-0841
– Aortic Wall Elastic Properties in Case of Bicuspid Aortic Valve.
Goudot, G ; Mirault, T ; Bruneval, P ; Soulat, G ; Pernot, M ; Messas, E
Front Physiol, 2019 Apr 10, PMID: 31024329 PMCID: PMC6467952 DOI: 10.3389/fphys.2019.00299
– Carotid Stiffness Assessment With Ultrafast Ultrasound Imaging in Case of Bicuspid Aortic Valve.
Goudot, G ; Mirault, T ; Khider, L ; Pedreira, O ; Cheng, C ; Porée, J & al
Front Physiol, 2019 Oct 23, PMID: 31708797 PMCID: PMC6819321 DOI: 10.3389/fphys.2019.01330
– Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Legrand, A ; Devriese, M ; Dupuis-Girod, S ; Simian, C ; Venisse, A ; Mazzella, JM & al
Genet Med, 2019 Jul, PMID: 30474650 DOI: 10.1038/s41436-018-0356-2
– Deep Vascular Phenotyping in Patients With Renal Multifocal Fibromuscular Dysplasia.
Bruno, RM ; Marais, L ; Khettab, H ; Lorthioir, A ; Frank, M ; Jeunemaitre, X & al
Hypertension, 2019 Feb, PMID: 30624987 DOI: 10.1161/HYPERTENSIONAHA.118.12189
– Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.
Henneton, P ; Albuisson, J ; Adham, S ; Legrand, A ; Mazzella, JM ; Jeunemaitre, X & al
Circ Genom Precis Med, 2019 Mar, PMID: 30919682 DOI: 10.1161/CIRCGEN.117.001996
– Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review.
Frank, M ; Adham, S ; Zinzindohoué, F ; Jeunemaitre, X
J Gastroenterol Hepatol, 2019 May, PMID: 30357907 DOI: 10.1111/jgh.14522
– Fibromuscular Dysplasia and Its Neurologic Manifestations: A Systematic Review.
Touzé, E ; Southerland, AM ; Boulanger, M ; Labeyrie, PE ; Azizi, M ; Bouatia-Naji, N & al
JAMA Neurol, 2019 Feb 1, PMID: 30285053 DOI: 10.1001/jamaneurol.2018.2848
– Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali, N ; Baker, D ; Brady, AF ; Burrows, N ; Cervi, E ; Cilliers, D & al
Genet Med, 2019 Sep, PMID: 30837697 DOI: 10.1038/s41436-019-0470-9
– Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Luyckx, I ; Kumar, AA ; Reyniers, E ; Dekeyser, E ; Vanderstraeten, K ; Vandeweyer, G & al
Eur J Hum Genet, 2019 Jul, PMID: 30820038 PMCID: PMC6777542 DOI: 10.1038/s41431-019-0364-y
– Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection.
Adlam, D ; Olson, TM ; Combaret, N ; Kovacic, JC ; Iismaa, SE ; Al-Hussaini, A & al
J Am Coll Cardiol, 2019 Jan 8, PMID: 30621952 DOI: 10.1016/j.jacc.2018.09.085
– First international consensus on the diagnosis and management of fibromuscular dysplasia.
Gornik, HL ; Persu, A ; Adlam, D ; Aparicio, LS ; Azizi, M ; Boulanger, M & al
Vasc Med, 2019 Apr, PMID: 30648921 DOI: 10.1177/1358863X18821816
– Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Devriese, M ; Legrand, A ; Courtois, MC ; Jeunemaitre, X ; Albuisson, J
Vasc Med, 2019 Oct, PMID: 31164056 DOI: 10.1177/1358863X19853360
– Overall survival and mortality risk factors in Takayasu »s arteritis: A multicenter study of 318 patients.
Mirouse, A ; Biard, L ; Comarmond, C ; Lambert, M ; Mekinian, A ; Ferfar, Y & al
J Autoimmun, 2019 Jan, PMID: 30122419 DOI: 10.1016/j.jaut.2018.08.001
- P443 Natural history of arterial morbidity in vascular ehlers-danlos syndrome
M Frank, S Adham, F Pitoccho, N Denarie, E Mousseaux, X Jeunemaitre
European Heart Journal 40 (Supplement_1), ehz747. 0109 (European Society of Cardiology congress 2019) - Mitral valve phenotype in vascular Ehlers Danlos syndrome
S Zarka, T Mirault, M Frank, C Cheng, R Besnainou, S Abouth, A Rossi, …
Archives of Cardiovascular Diseases Supplements 11 (1), 66 (Journées Européennes de la Société Française de Cardiologie 2019) - Improvementof survival in vascular Ehlers-Danlos syndrome: effect of celiprolol in along-term cohort study
M Frank, S Adham, S Seigle, T Mirault, P Henneton, A Legrand, …
European journal of human genetics 27, 662-662 (European Society of Human Genetic congress 2019) - Screening a French series of Ehlers-Danlos syndrome patients with periodontal manifestations reveals new variants in C1R and C1S and refines the clinical features of …
A Legrand, M Devriese, S Adham, K Benistan, E Schaefer, R Jaussaud,
European journal of human genetics 27,123-123 (European Society of Human Genetic congress 2019) - Takayasu arteritis therapy: The role of imaging in the exploration of the disease and its interventional results
T Mirault
Bulletin de l’académie naitonale de médecine 204 (1), 29-40 (académie nationale de médecine 2019)
The CRMVR coordinates the activity of care, comprehensive care and epidemiological, clinical and fundamental research in connection with 3 constituent sites and 16 competence centers spread throughout the country.
The management of primary lymphedemas is ensured by 2 constituent centers. These are the lymphology department of Dr Stéphane Vignes at the Cognacq-Jay hospital (75015 PARIS), and the vascular medicine department of Pr Isabelle Quere at the Montpellier University hospital. For superficial vascular malformations, the constitutive site is located in the neuroradiology department at the Lariboisière hospital directed by Dr Annouk Bisdorff-Bresson.
Assessment of Takayasu arteritis activity by localized ultrasound microscopy
INSERM | 17.04.2023
The team of the reference center for rare arterial diseases of the Georges-Pompidou European Hospital, Inserm and Université Paris Cité, coordinated by Pr Tristan Mirault, has for the first time used localized ultrasound microscopy to assess the activity of Takayasu arteritis.
Presentation of the reference center by Dr Tristan Mirault, new medical coordinator of the reference center for rare vascular diseases
Webconference on « Clinical and radiological signs and molecular diagnosis of vascular EDS » by Pr Xavier Jeunemaître
FAI²R web conference : Diagnosing Takayasu arteritis in adults with Pr Tristan Mirault
FAI²R web conference : Treating Takayasu arteritis in adults with Pr Tristan Mirault
FAI²R web conference : Takayasu arteritis with Pr Tristan Mirault
Contact information
At the Georges-Pompidou european hospital, the reference center for rare vascular diseases in brief …
* data valid for 2021