Screenings for people with Marfan syndrome

The main guidance

In the US, the 2022 ACC/AHA guideline for aortic disease sets out imaging for people with Marfan syndrome and screening for their relatives. (ACC/AHA aortic disease, 2022) The NHS says care involves a team that may include a geneticist, a genetic counsellor, a heart specialist, an eye specialist and a bone surgeon, with one doctor coordinating it so every part of the syndrome is closely monitored. (NHS treatment) MedlinePlus says people with Marfan syndrome should see their provider at least once every year. (MedlinePlus encyclopedia)

Checks the guidance lists

Check	When	Source
Echocardiogram of the aortic root and ascending aorta	At diagnosis, 6 months later, then every year if stable	(ACC/AHA aortic disease, 2022)
CT or MRI of the chest aorta	Adults: after the first echocardiogram; anyone whose aorta is not seen well on echocardiogram	(ACC/AHA aortic disease, 2022)
MRI or CT of the chest aorta after aortic root replacement	Every year, then every other year if normal and unchanged after 2 years	(ACC/AHA aortic disease, 2022)
Imaging for an abdominal aortic aneurysm after aortic root replacement	Every 3 to 5 years	(ACC/AHA aortic disease, 2022)
Eye check with an eye specialist	At diagnosis; may be yearly	(NHS diagnosis)(NHS treatment)
Spine check for scoliosis	Especially during the teenage years	(MedlinePlus encyclopedia)
Visit with your provider	At least once every year	(MedlinePlus encyclopedia)
Genetic testing and aorta imaging for at-risk relatives	When someone in the family is diagnosed	(ACC/AHA aortic disease, 2022)
Blood pressure	All adults 18 and older	(USPSTF blood pressure, 2021)

Aorta imaging

From diagnosis. The ACC/AHA guideline recommends a transthoracic echocardiogram at the time of diagnosis to measure the aortic root and ascending aorta, a second one 6 months later to see how fast the aorta is growing, and then a yearly echocardiogram if the measurements are stable. If the aortic root or ascending aorta cannot be seen well on echocardiogram, it recommends a CT or MRI of the chest aorta. For adults, it says a CT or MRI after the first echocardiogram is reasonable to confirm the measurements and check the rest of the chest aorta. (ACC/AHA aortic disease, 2022)

How often. The guideline says imaging is usually yearly, with the timing depending on age, aorta size, how fast it grows and family history, and that imaging is done more often when the aorta grows quickly or is wider than 4.5 cm. It says the aortic root is the part most at risk, followed by the ascending aorta, and that measurements are compared with charts for age, sex and body size. (ACC/AHA aortic disease, 2022) MedlinePlus says an echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves, and that depending on the results it may be needed less often. (MedlinePlus encyclopedia) The NHS says you will need regular check-ups with a heart specialist, which may include a regular echocardiogram. (NHS treatment) See heart screenings by age.

After aortic root replacement. The guideline recommends MRI (or CT) of the chest aorta to look for disease further along the aorta, yearly at first and then every other year if the size is normal and unchanged after 2 years. It says imaging every 3 to 5 years for a possible abdominal aortic aneurysm is reasonable. It notes that aneurysms further along the aorta are much less common than aortic root disease, and that most people who have them have had root replacement or smoke cigarettes. (ACC/AHA aortic disease, 2022) For what an abdominal aorta scan involves and what the measurements mean, see AAA ultrasound: what to expect and AAA screening results.

Eyes and spine

The NHS says an eye specialist checks for dislocation of the lens as part of diagnosis. (NHS diagnosis) After diagnosis, it says you may be referred to an eye specialist to assess your eyes and vision and may need an annual check-up to spot any new developments. It says people with Marfan syndrome have a higher risk of glaucoma, so the eyes will be carefully monitored for signs of it. (NHS treatment) MedlinePlus says an eye exam may show defects of the lens or cornea, retinal detachment or vision problems. (MedlinePlus encyclopedia) See eye exams by age.

MedlinePlus says to monitor for scoliosis, especially during the teenage years. (MedlinePlus encyclopedia) The NHS says a mildly curved spine is closely monitored to see whether it gets worse, and that an MRI scan can look at the aorta and also detect widening of the lining around the spinal cord (dural ectasia). (NHS treatment)(NHS diagnosis) See scoliosis screening.

Checks for relatives

The NHS says Marfan syndrome is inherited from a parent in about 3 in 4 cases, and that a child of a parent with it has a 1 in 2 chance of inheriting it. (NHS) The ACC/AHA guideline lists the features of Marfan syndrome among the risk factors for inherited aortic disease. When a disease-causing gene change is found, it recommends genetic counselling, genetic testing of at-risk relatives, and aorta imaging for relatives who have inherited the change, by echocardiogram or by CT or MRI if the aorta is not seen well. If no gene change is found, it recommends aorta imaging for at-risk relatives. (ACC/AHA aortic disease, 2022)

Routine age-based screening

The USPSTF recommends blood pressure screening for all adults 18 and older. (USPSTF blood pressure, 2021) Its one-time abdominal aortic aneurysm ultrasound for men 65 to 75 who have ever smoked is for the general population (USPSTF AAA, 2019); people with Marfan syndrome have the closer aorta imaging above. See abdominal aortic aneurysm screening and blood pressure readings: what they mean.

When to contact a provider

MedlinePlus, Marfan syndrome, when to contact a medical professional: (MedlinePlus encyclopedia)

Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family.

Where they differ:

How often to scan the aorta. The ACC/AHA guideline recommends a yearly echocardiogram once the size is stable, and more often with fast growth or a larger aorta, (ACC/AHA aortic disease, 2022) while MedlinePlus says the test may be needed less often than yearly depending on the results, (MedlinePlus encyclopedia) and the NHS says regular without giving an interval. (NHS treatment)
Whole-aorta imaging. The ACC/AHA guideline calls a CT or MRI after the first echocardiogram reasonable for adults, a weaker recommendation than its yearly echocardiogram, and recommends regular chest aorta imaging mainly after aortic root replacement. (ACC/AHA aortic disease, 2022)
Abdominal aorta. The USPSTF screens once, at 65 to 75, in men who have ever smoked, (USPSTF AAA, 2019) while the ACC/AHA guideline calls imaging every 3 to 5 years reasonable for people with Marfan syndrome after aortic root replacement, at any age. (ACC/AHA aortic disease, 2022)
Strength of the evidence. The ACC/AHA imaging recommendations for Marfan syndrome are based mainly on expert opinion and limited data. (ACC/AHA aortic disease, 2022)

Your doctor decides what your result means for you.

Questions people ask

How often should the aorta be checked in Marfan syndrome?

The 2022 ACC/AHA aortic disease guideline recommends an echocardiogram at diagnosis and again 6 months later to measure how fast the aorta grows, then a yearly echocardiogram if the size is stable. It says imaging is done more often when the aorta grows fast or is larger. (ACC/AHA aortic disease, 2022)

Do adults with Marfan syndrome need a CT or MRI of the whole aorta?

The guideline says that in adults, after the first echocardiogram, a CT or MRI of the chest aorta is reasonable to confirm the measurements and look at the rest of the chest aorta. After aortic root replacement it recommends MRI or CT of the chest aorta yearly, then every other year if normal and unchanged after 2 years, and imaging every 3 to 5 years for an abdominal aortic aneurysm. (ACC/AHA aortic disease, 2022)

Do people with Marfan syndrome need eye checks?

Yes. The NHS says you may be referred to an eye specialist and may need an annual check-up, and that your eyes will be carefully monitored for glaucoma. MedlinePlus says an eye exam may show lens or cornea defects, retinal detachment or vision problems. (NHS treatment) (MedlinePlus encyclopedia)

Should relatives of someone with Marfan syndrome be checked?

The ACC/AHA guideline recommends genetic testing of at-risk relatives when a disease-causing gene change is known, and aorta imaging for relatives who carry it. If no gene change is found, it recommends aorta imaging for at-risk relatives. The NHS says a child of a parent with Marfan syndrome has a 1 in 2 chance of inheriting it. (ACC/AHA aortic disease, 2022) (NHS)

Is the routine AAA screening at 65 enough for someone with Marfan syndrome?

No. The USPSTF one-time ultrasound for men 65 to 75 who have ever smoked is for the general population. People with Marfan syndrome follow the aorta imaging schedule in the ACC/AHA guideline, set by their heart team. (USPSTF AAA, 2019) (ACC/AHA aortic disease, 2022)