Loeys-Dietz-syndroom: aortadissecties en aneurysmata

Background: LoeysDietz syndrome is a connective tissue disorder accompanied by lifethreatening vascular abnormalities such as aneurysms and dissections. Recognising the acute clinical picture is essential for rapid diagnosis and treatment. Case description: We describe three members of a family with a typical acute presentation of LoeysDietz syndrome, but without the characteristic physical abnormalities. A 40yearold 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 thoracoabdominal aorta, for which surgical repair was performed. His sister and brother also presented with type B aortic dissections and both underwent surgery for thoracoabdominal 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. Conclusion: LoeysDietz 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.