Arterial elongation and tortuosity leads to detection of a de novo TGFBR2 mutation in a young patient with complex aortic pathology

Eur Heart J. 2013 Apr;34(15):1133. doi: 10.1093/eurheartj/ehs479. Epub 2013 Jan 9.

Authors

Koen M van de Luijtgaarden¹, Frederico Bastos Gonçalves, Danielle Majoor-Krakauer, Hence J M Verhagen

Affiliation

¹ Department of Vascular Surgery, Erasmus University Medical Center, Suite H-810, PO Box 2040, 3000 CA Rotterdam, The Netherlands.

PMID: 23303658
DOI: 10.1093/eurheartj/ehs479

No abstract available

Publication types

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

MeSH terms

Aortic Aneurysm, Abdominal / genetics*
Aortic Dissection / genetics*
Humans
Iliac Aneurysm / genetics*
Male
Middle Aged
Protein Serine-Threonine Kinases / genetics*
Receptor, Transforming Growth Factor-beta Type II
Receptors, Transforming Growth Factor beta / genetics*
Torsion Abnormality / genetics*

Substances

Receptors, Transforming Growth Factor beta
Protein Serine-Threonine Kinases
Receptor, Transforming Growth Factor-beta Type II