This protocol addresses patients with Loeys-Dietz syndrome who present with aortic dilation or aneurysm involving the aortic root or ascending thoracic aorta. Loeys-Dietz syndrome is characterised by aortic and branch vessel aneurysms and dissections, arterial tortuosity, and skeletal features similar to those seen in Marfan syndrome but with unique craniofacial and cutaneous features.
The central consideration is prophylactic aortic surgery, with the threshold for intervention determined by a set of individualised clinical and patient-level factors. The full protocol specifies which factors are weighed and how the surgical decision is reached — only part of the framework is outlined here.
DOI: 10.1161/CIR.0000000000001106
Loeys-Dietz syndrome is characterized by aortic and branch vessel aneurysms and dissections, arterial tortuosity, and skeletal features similar to those seen in Marfan syndrome but with unique craniofacial and cutaneous features.
In patients with Loeys-Dietz syndrome and aortic dilation, the surgical threshold for prophylactic aortic root and ascending aortic replacement should be informed by the specific genetic variant, aortic diameter, aortic growth rate, extra-aortic features, family history, patient age and sex, and physician and patient preferences (Table 11).
View source ↗