There are several clinical evaluations that are currently pursued together to determine a diagnosis of Loeys-Dietz syndrome.
It is recommended that if there is suspicion of the diagnosis of LDS, that individuals should be evaluated by a geneticist who is familiar with connective tissue disorders. During an initial visit, a detailed family and medical history will be taken. This, along with a comprehensive physical examination, will help the physician to evaluate the skeletal, craniofacial and skin-related features that are typically present in individuals with LDS.
If there is suspicion of LDS, an echocardiogram (ultrasound imaging of the heart) should be performed to assess whether there is aortic enlargement and/or other structural heart defects that are consistent with the diagnosis. A consultation with a cardiologist will be necessary to help interpret the cardiac findings.
A physician may also suggest further imaging of the arteries throughout the body. This is done by obtaining a CT with contrast or MRI with contrast of the entire arterial tree (head, neck, chest, pelvis and abdomen). These imaging studies will detect aneurysms found in other arteries. Three -dimensional reconstruction (3D) is recommended to check for arterial tortuosity, a common finding in individuals with LDS. Tortuosity of ateries are commonly see in the neck. This finding in itself does typically not cause medical concern, but can suggest more evidence to support the diagnosis of LDS.
Genetic testing for mutations (gene changes) within the TGFBR2 and TGFBR1 genes is clinically available if there is high suspicion of the diagnosis. It is recommended that this test be pursued through a geneticist, so that they will be able to accurately interpret and convey the results of the testing. A geneticists will also be able to interpret the family history and determine if genetic testing for other family members is appropriate. If a gene mutation is found in a child, oftentimes it is recommended to test the parents for the same mutation to give accurate recurrence risk information.
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