Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype

Circ Genom Precis Med. 2021 Feb;14(1):e003217. doi: 10.1161/CIRCGEN.120.003217. Epub 2021 Feb 1.

Authors

Alexandra Cirnu¹, Konstantinos Kolokotronis², Katharina Walz¹, Anne Kilinç¹, Anna Janz¹, Tatjana Williams¹, Albert Busch³, Simone Rost², Brenda Gerull^{1

4}

Affiliations

¹ Department of Cardiovascular Genetics, Comprehensive Heart Failure Center (A.C., K.W., A.K., A.J., T.W., B.G.), University Clinic Würzburg, Germany.
² Institute of Human Genetics, Julius-Maximilians-University Würzburg, Germany (K.K., S.R.).
³ Department of Vascular and Endovascular Surgery, Klinikum rechts der Isar, Technical University Munich, Germany (A.B.).
⁴ Department of Medicine I (B.G.), University Clinic Würzburg, Germany.

PMID: 33517666
DOI: 10.1161/CIRCGEN.120.003217

No abstract available

Keywords: aneurysm, dissecting; aortic aneurysm, thoracic; elastin; genetics; mutation, missense.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aorta, Thoracic / pathology
Aorta, Thoracic / surgery
Aortic Aneurysm, Thoracic / genetics
Aortic Aneurysm, Thoracic / pathology*
Coronary Vessels / diagnostic imaging
Femoral Artery / diagnostic imaging
Humans
Magnetic Resonance Angiography
Middle Aged
Mutation, Missense
Protein-Lysine 6-Oxidase / genetics*
Thrombosis / diagnosis

Substances

LOX protein, human
Protein-Lysine 6-Oxidase