Musings of a Marfan Mom

Finding a Marfan Cardiologist

| 10 Comments

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 akaplan@marfan.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.

Be Sociable, Share!

Related Post

10 Comments

  1. Great questions. My husband may have Marfan’s or some other connective tissue disorder, but hasn’t been diagnosed. He does have a cardiologist who’s familar with these types of disorders.

    Question, you mention the Ghent criteria is changing. Do you know what is changing, or proposed for the changes?

    [Reply]

    marfmom Reply:

    I do not know what the changes will be. It hasn’t be released yet. I have heard that those changes are expected to be released in the next couple of months. As soon as they are, I will be writing a post about it, and of course the National Marfan Foundation will have all the information on their website. I expect there will also be information at our annual conference this July. Have you heard of the conference? You and your husband may want to attend! :-)

    [Reply]

    marfmom Reply:

    If you haven’t seen them, Angela, the new diagnostic criteria is up. I wrote a series of blog posts on it back in July and you can also get information at http://www.marfan.org.

    [Reply]

  2. This is excellent information, Maya! If I can get the Broken Hearts Web site back up, I’m going to post a link. And interestingly, McKenzie’s heart surgeon at Shands is very familiar with Ehlers-Danlos (his middle child has it). Thanks, Maya, for everything you do.

    [Reply]

    marfmom Reply:

    Wow, thanks for wanting to link! Please let me know when the website is back up :-) And what a small world, that his daughter has EDS. Which type? I am so glad McKenzie didn’t need to go back into Shands this week, btw. Whew!

    [Reply]

  3. We have heard about the conference. We were wanting to attend last year, but it just didn’t fit into our summer schedule. Having a teen and preteen makes the summers pretty busy. What has really made us interested in Marfan (other connective tissue disorders) is my husband’s AAA and our teen being so tall and thin.

    [Reply]

    marfmom Reply:

    Well this year’s is July 8-11. I am one of the coordinators of the teen program, which is for 13-19 year olds (and some 12 year olds, if parents want). It’ll be in Houston this year and personally, I think it’s going to be the best one yet, between all the new research being presented and the changes to the teen program we’re implementing for this year :-)

    [Reply]

  4. Just wanted to clarify: there are two types of echocardiograms. A TTE (transthoracic echocardiogram) which views the heart through the chest wall. Therefore the ultrasound probe will be on your chest.
    A TEE (transesophageal echocardiogram) which views the heart from behind, through the esophagus. The ultrasound probe is placed down the patients throat and into their esophagus. A TEE allows for a clearer picture of the posterior heart and structures.

    [Reply]

    marfmom Reply:

    Thanks for the clarification as to what a TEE does better. Whenever I use the term echo here, I mean the exterior echo. :-)

    [Reply]

  5. Hubby’s cardiologist has been with him since he was diagnosed in the early 1970’s but Hubby and the Girl are seen by Dr Dietz at Hopkins at least once a year for their (what I like to call) Annual Marfan Checkup. :)

    [Reply]

Leave a Reply

Required fields are marked *.