Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients-Reference-Cited by-同舟云学术

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Published:2024-06 Issue:3 Volume:17 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Demirdas Serwet¹²^ORCID,van den Bersselaar Lisa M.¹,Lechner Rosan¹^ORCID,Bos Jessica³⁴^ORCID,Alsters Suzanne I.M.³⁴^ORCID,Baars Marieke J.H.³⁴^ORCID,Baas Annette F.⁵^ORCID,Baysal Özlem⁶^ORCID,van der Crabben Saskia N.³⁴^ORCID,Dulfer Eelco⁷^ORCID,Giesbertz Noor A.A.⁵^ORCID,Helderman-van den Enden Apollonia T.J.M.⁸^ORCID,Hilhorst-Hofstee Yvonne⁹^ORCID,Kempers Marlies J.E.⁶^ORCID,Komdeur Fenne L.³⁴^ORCID,Loeys Bart⁶^ORCID,Majoor-Krakauer Daniëlle¹^ORCID,Ockeloen Charlotte W.⁶^ORCID,Overwater Eline³⁴⁷,van Tintelen Peter J.⁵^ORCID,Voorendt Marsha⁶,de Waard Vivian¹⁰^ORCID,Maugeri Alessandra³^ORCID,Brüggenwirth Hennie T.¹^ORCID,van de Laar Ingrid M.B.H.¹¹¹^ORCID,Houweling Arjan C.³⁴^ORCID

Affiliation:

1. Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).

2. European Reference Network ReCONNET, Ehlers Danlos Syndrome Working Group, Rotterdam, the Netherlands (S.D.).

3. Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).

4. Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).

5. Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.).

6. Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.).

7. Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.).

8. Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.T.J.M.H.-v.d.E.).

9. Department of Clinical Genetics, Leiden University Medical Center, the Netherlands (Y.H.-H.).

10. Department of Medical Biochemistry, Amsterdam University Medical Center, Amsterdam Cardiovascular Sciences, the Netherlands (V.d.W.).

11. European Reference Network for Rare Multisystemic Vascular Disease, Medium Sized Arteries Working Group, Rotterdam, the Netherlands (I.M.B.H.v.d.L.).

Abstract

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1 . The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent ( P =0.90), but occurred at a younger age ( P =0.01). A major event occurred more often and at a younger age in men compared with women ( P <0.001 and P =0.004, respectively). Aortic aneurysms ( P =0.003) and pneumothoraces ( P =0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain ( P =0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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