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[Loeys-Dietz syndrome: aortic dissections and aneurysms].
- Source :
-
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2015; Vol. 159, pp. A8342. - Publication Year :
- 2015
-
Abstract
- Background: Loeys-Dietz syndrome is a connective tissue disorder accompanied by life-threatening vascular abnormalities such as aneurysms and dissections. Recognising the acute clinical picture is essential for rapid diagnosis and treatment.<br />Case Description: We describe three members of a family with a typical acute presentation of Loeys-Dietz syndrome, but without the characteristic physical abnormalities. A 40-year-old man presented with a type B aortic dissection and was treated with medication. Shortly afterwards he required emergency surgery for a ruptured aneurysm of the left common iliac artery. He subsequently developed a type A aortic dissection and progressive dilatation of his thoraco-abdominal aorta, for which surgical repair was performed. His sister and brother also presented with type B aortic dissections and both underwent surgery for thoraco-abdominal aortic aneurysms. They died at the age of 50 and 53 respectively. Clinical genetic investigation revealed a mutation of the type 2 receptor of the transforming growth factor beta (TGFβ) gene.<br />Conclusion: Loeys-Dietz syndrome is a rare hereditary condition accompanied by acute clinical symptoms. Physical characteristics of the syndrome may be absent. Timely recognition is essential for appropriate treatment and a good prognosis.
- Subjects :
- Adult
Aortic Dissection surgery
Aortic Aneurysm surgery
Endovascular Procedures
Fatal Outcome
Female
Humans
Loeys-Dietz Syndrome complications
Loeys-Dietz Syndrome genetics
Loeys-Dietz Syndrome surgery
Male
Middle Aged
Mutation
Aortic Dissection etiology
Aortic Aneurysm etiology
Loeys-Dietz Syndrome diagnosis
Subjects
Details
- Language :
- Dutch; Flemish
- ISSN :
- 1876-8784
- Volume :
- 159
- Database :
- MEDLINE
- Journal :
- Nederlands tijdschrift voor geneeskunde
- Publication Type :
- Academic Journal
- Accession number :
- 26131745