Many of us have felt the anxiety of trying to find a new doctor, and the frustration of having to “train” a doctor if a Marfan specialist can’t be found. Today’s post is going to be focused on the types of questions to ask a general cardiologist in order to discern how much they know about Marfan, as well as questions to hold them accountable. This is geared mostly towards patients seeking a diagnosis, but some are relevant for any Marfan or related disorder patient.
1) How many patients with Marfan syndrome have you treated before, and when?
Why this is important: This will give you an idea of the doctor’s experience, how up-to-date his information is, and how honest he might be. Both my current and previous doctors were able to provide me with roundabout numbers of how many had come through their clinic in the past few years.
2) What criteria do you use to diagnose a patient as having Marfan?
Why this is important: Currently, doctors should be using what is called the Ghent criteria. For now (this will be changing soon), that’s comprised of major and minor classifications of symptoms. A doctor who only looks at your heart/aorta and you height is missing the big picture. In fact, 20% of Marfan patients NEVER have aortic enlargement, and others don’t until middle age.
3) Are you familiar with Ehlers-Danlos syndrome, Loeys-Dietz syndrome, FAA, MASS Phenotype, and Beals syndrome?
Why this is important: These are disorders related to Marfan. When being evaluated for Marfan, your doctor should consider these disorders as well. If they’re not familiar with them, they need to get familiar with them. Treatment and prognosis is different for each disorder, so diagnosis is very important (which I realize is not always possible, because these disorders are often progressive, but I think it should be a goal).
4) What tests do you use to assess the aorta?
Why this is important: There are 4 tests you can use to check the aorta: An echocardiogram, a TEE, an MRI, or a CT scan. An x-ray, ECG, and EKG will NOT work. The NMF recommends using whichever one of those first four that can most expertly be done. If you have a knowledgeable echo tech, there shouldn’t much difference between the reading on the echo and the reading on an MRI or CT (I’m not very familiar with a TEE, so I’m not going to speak on those). An echo will show valve leakage better than an MRI or CT. Echoes are cheaper as well. I get an echo every year and an MRI every few years. If your doctor insists on a CT, ask why, because they expose you to a LOT of radiation. I’ve had them in an emergency situation, but otherwise I try to avoid them at all costs. The aorta is measured every 3-12 months, depending on the rate of growth.
5) What measurements do you look for? How do you gage growth?
Why this is important: The echo tech needs to be taking pictures of the ENTIRE aorta. Some doctors mistakenly think the root is the only thing that matters, but this is not true. Patients with Marfan can dissect anywhere along the aorta at any time. They do not typically dissect in other blood vessels (though it happens sometimes), and if you have had a dissection outside of the aorta, discuss the possibility of Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome with your doctor. For your root, the tech should be taking the measurement at the sinuses of valsalva, not above it. You also need to have measurements of the arch, ascending, and descending aorta. Your cardiologist should plot these on the z-chart (which shows what constitutes normal aortic root size by age and body size). I suggest requesting your doctor plot your root score in front of you, so that you can see how close to being enlarged it is.
6) What other specialists do you recommend to continue with my diagnostic process?
Why this is important: A cardiologist cannot make the diagnosis alone. A geneticist should be involved to collect family history, as well as an orthopedist to look at skeletal criteria, particularly scoliosis, and an ophthalmologist to check the lenses and retina (using a slit lamp exam) and screen for early glaucoma and cataracts.
The National Marfan Foundation is a great resource and when looking for a doctor, you should definitely consult them. They keep a listing of self-identified Marfan clinics. While they don’t endorse the clinics, chances are the clinics are a better place to start when looking for a new doctor. They can also try to put you in contact with other Marfan patients in your area, who may in turn have doctors to recommend. To get this information, contact the NMF’s nurse, Amy Kaplan, at 1-800-8-MARFAN or firstname.lastname@example.org.
The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.