Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Autor: Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Oksjoki R; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Farholt S; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.; Center for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Nielsen DG; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Christensen AH; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Fagerberg CR; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gregersen PA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Christensen MB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rasmussen TB; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 191-200. Date of Electronic Publication: 2022 Jul 04.
DOI: 10.1111/cge.14176
Abstrakt: The study describes all patients in Denmark with vascular Ehlers-Danlos syndrome (vEDS). Carriers of pathogenic or likely pathogenic COL3A1 variants were retrospectively identified through registries and specialized clinics. Medical records were reviewed for vascular- or organ ruptures and invasive procedures performed. Identified families were divided by variant type (null, splice, and missense) and familial phenotypes (severe or attenuated). Families in which at least one carrier has suffered a major event before the age of 30 were classified as severe, whereas families in which at least three carriers had reached the age of 40 without a major event were classified as attenuated. Eighty-seven persons (59 still alive) from 25 families were included with a mean observation time of 44 years. Sixty-seven percent of patients could be subclassified in a familial phenotype. Thirty-one major events were observed. Eleven complications in 172 invasive procedures were recorded. No fatal complications to elective surgery were observed. The type of COL3A1 variant did not reliably predict phenotype, but a pattern of intrafamilial consistency emerged with some families showing an attenuated form of vEDS. Elective medical procedures appear to be safer than previously thought, although data only allow for conclusions regarding individuals from families with the attenuated form of vEDS.
(© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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