title: Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation.
abstract: This report describes the clinical course and management of a patient with Loeys-Dietz syndrome (LDS) type 2. In 2003, a 31-year-old male was diagnosed with acute aortic dissection type B; in the following six years he underwent multiple surgical and endovascular aortic procedures at different thoracic and abdominal levels secondary to progressive enlargement of both the non-dissected thoracic aorta and the false lumen distal to the left subclavian artery. LDS is characterized by arterial tortuosity and aneurysms as a result of heterozygous mutations in genes encoding transforming growth factor-β receptor 1 and 2. Further studies are required to establish the proper surgical management.
authors.affiliation: The Baird Institute, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
authors.forename: J James B
authors.initials: JJ
authors.lastname: Edelman
authors.forename: Fabio
authors.initials: F
authors.lastname: Ramponi
authors.forename: Paul G
authors.initials: PG
authors.lastname: Bannon
authors.forename: Richmond
authors.initials: R
authors.lastname: Jeremy
mesh_terms: D000328:Adult; D001027:Aortography / Q000379:methods; D004252:DNA Mutational Analysis; D018450:Disease Progression; D057510:Endovascular Procedures; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014656:Vascular Surgical Procedures
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II