Complications
There are several major complications that have been noted in early patient studies. The majority of individuals with Loeys-Dietz syndrome are diagnosed with aneurysms (commonly called enlargements or dilations) of the aortic root. Aneurysms can also be seen throughout the arterial tree. Although monitoring of aneurysms, surgical intervention and medication use will hopefully help to decrease the amount of cardiovascular complications associated with LDS, there have been reported deaths as a result of an aneurysm rupture or tear, most often in the aortic root or abdominal aorta. Individuals diagnosed with LDS should go to the emergency room if they have any episodes of intense and/or prolonged pain in the body. As many emergency room professionals may not be familiar with the diagnosis of LDS, it is important that they know of the predisposition to arterial rupture and that prompt imaging should be performed.Another complication observed in individuals with LDS is cervical-spine instability. This is an instability in the cervical vertebrae of the neck, which lie directly below the skull. This can cause potentially serious risks, so it should be evaluated with x-rays in the flexion and extension positions. An orthopedics physician may need to be consulted and may recommend further imaging such as MRI or CT of the neck. These images should be performed prior to any surgeries that require intubation, as this will impact anesthesia management. A small proportion of individuals with LDS require surgical intervention to fuse the bones of the skull to prevent dangerous slippage of the bones around the spinal cord.
An important complication specific to women is the high incidence of difficulties during pregnancy. There is a significantly high risk of aortic dissection or uterine rupture during or directly after pregnancy. If you have a diagnosis of LDS, you should consult your physicians prior to a pregnancy to discuss risks of pregnancy and to determine a plan for pregnancy management. As some individuals with LDS are on the medication Losartan, it is important to note that this medication is teratogenic (causing medical concerns, birth defects and/or death) to fetuses.