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

doi:10.1080/00015385.2020.1802904

Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene

Acta Cardiol. 2021 Jul;76(5):557-558. doi: 10.1080/00015385.2020.1802904. Epub 2020 Aug 4.

Authors

Piotr Zieminski^{1

2}, Jessie Risse^{1

2}, Anne Legrand^{3

4

5}, Virginie Dufrost^{1

2}, Laurence Bal⁶, Nicla Settembre^{2

7}, Sergueï Malikov^{2

7}, Xavier Jeunemaitre^{3

4

5}, Denis Wahl^{1

2}, Stéphane Zuily^{1

2}

Affiliations

¹ Vascular Medicine Division and Regional Competence Center for Rare Vascular and Systemic Autoimmune Diseases, Nancy University Hospital, Vandoeuvre-lès-Nancy, France.
² Inserm, UMR_S 1116, Université de Lorraine, Vandoeuvre-lès-Nancy, France.
³ Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.
⁴ Inserm, U970, Paris Cardiovascular Research Centre, Paris, France.
⁵ Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
⁶ Timone Aortic Center, Department of Vascular Surgery, La Timone Hospital, Marseille, France.
⁷ Department of Vascular Surgery, Nancy University Hospital, Vandoeuvre-lès-Nancy, France.

PMID: 32746767
DOI: 10.1080/00015385.2020.1802904

No abstract available

Keywords: Ehlers-Danlos Syndrome; PLOD1; arterial aneurysm; arterial dissection; kyphoscoliosis; vascular fragility.

Publication types

Case Reports

MeSH terms

Adult
Ehlers-Danlos Syndrome* / genetics
Female
Humans
Mutation
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase* / genetics

Substances

PLOD1 protein, human
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase