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
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Media type:
E-Article
Title:
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
Published in:American Journal of Medical Genetics Part A
Language:
English
DOI:
10.1002/ajmg.a.63095
ISSN:
1552-4825;
1552-4833
Origination:
Footnote:
Description:
<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>ELN</jats:italic>. This case report includes the clinical findings and relates these to known molecular mechanisms of CL.</jats:p>