What it is
The most serious risk is widening of the aorta, which can tear. Regular heart scans and medicines to lower blood pressure reduce this risk, and surgery may be needed.
Care usually involves a team including cardiology, eye and genetics specialists.
Common signs
- Being tall and thin with long limbs and fingers
- A chest that sinks in or sticks out
- A curved spine
- Short-sightedness or a dislocated lens
- Flexible joints
How it is usually diagnosed
- Examination
- Echocardiogram
- Eye examination
- Genetic testing
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Echocardiogram reports with aortic measurements over time
- Genetic test results
- Eye clinic letters
- Cardiology letters
Questions to ask your doctor
- How wide is my aorta and how often should it be scanned?
- Which activities should I avoid?
- Should my family be tested?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- Sudden severe pain in the chest, back or tummy, or sudden loss of vision: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.