Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.

Autor: Krarup NT; Department of Cardiology, Viborg Regional Hospital, Viborg, Denmark., Hvidbjerg M; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Zaremba T; Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark., Sommerlund M; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark., Christensen MK; Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Apr; Vol. 191 (4), pp. 1059-1064. Date of Electronic Publication: 2022 Dec 21.
DOI: 10.1002/ajmg.a.63095
Abstrakt: Cutis laxa (CL) is a rare, inherited or acquired connective tissue disorder characterized by abnormal elastic fibers causing loose and redundant skin and a prematurely aged appearance. The syndrome has been associated with hypertension, but cases with early-onset ischemic heart disease have never been described. Here, we report a 21-year-old Danish female with activity-related shortness of breath and oedema of the lower extremities. The patient had a clinical diagnosis of autosomal dominant CL, but no genotyping had been performed prior to the index admission. The patient was diagnosed with ischemic heart disease, based on results of non-invasive cardiovascular imaging (including MRI and PET-CT) followed by invasive treatment of a critical left main coronary artery stenosis. Subsequent referral to genetic testing revealed a likely pathogenic intronic variant in ELN. This case report includes the clinical findings and relates these to known molecular mechanisms of CL.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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