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Marfan Syndrome and Aorta Disease (Dr. Svensson 10/31/11)

Monday, October 31, 2011 - Noon
Lars Svensson, MD, PhD

Lars Svensson, MD, PhD
Director of the Aorta Center, Director of the Aorta Center, specializing in the treatment of Marfan Syndrome and Connective Tissue Disorders, and Director of Quality and Process Improvement in the Department of Thoracic and Cardiovascular Surgery

Description:

Marfan Syndrome is a condition that affects the connective tissue of the body and causes damage to the heart, aorta, and other parts of the body, which can result in a medical emergency and become life-threatening. Dr. Lars Svensson answers your questions about Marfan Syndrome and Aortic Disease, including diagnosis and treatments.

More Information

Cleveland_Clinic_Host: Thank you for joining us, let's begin with the questions

Dr__Svensson: Thank you for having me.



Marfan Syndrome

gstamm: What is the expected progression of Marfan Syndrome?

Dr__Svensson: In patients who are on medications with an aortic root size less than 4.5 - 4.7 cm, the risk of aneurysm growth can often be controlled for many years.

In patients who have surgery for aortic root aneurysms a recent study we published in Journal of Thoracic and Cardiovascular Surgery showed that after the David procedure survival was equivalent to age and gender matched USA population.



Medications

VeggieFan: I had Aortic Dissection surgery in 2005. Approx 2 years later, I had an event that caused a period of chest discomfort and higher blood pressure. My dosage of Metropolol was doubled and I was also put on Losartan. My cardiologist took me off the Losartan, due to the expense, and kept me on Metropolol alone. Is the high expense of Losartan worth the possible benefit of the avoidance of arterial hardening? Does my age (53) matter in this decision? Thank you.

Dr__Svensson: The most important medication we know of as far as preventing further growth of aneurysms is to keep blood pressure very carefully under control particularly with beta blockers. At this time, we have no good evidence that losartan will help but theoretically it may.

taylormary: Since my aorta size has not changed in YEARS and is considered in the normal range, do I need to continue my beta-blocker?

Dr__Svensson: YES. Beta blockers do appear to slow down the risk of growth and furthermore in the general population, patients on beta blockers have improved long term survival. Unless you are having complications from beta blockers I would not recommend stopping.

cynfnp: 18y/o whose cardiologist placed him on losartan initially. Should he be on both beta blocker and losartan? Are you aware when the losartan study will be completed?

Dr__Svensson: Ideally if the patients can tolerate both a beta blocker and losartan that may be the preferred treatment but until the results of the Losartan trial become available we do not know how beneficial Losartan is. The losartan trial was completed for enrollment the beginning of this year. It will probably take 2 or 3 years before we have some information from the trial, if there is a difference.

LDE2: My 16 year old son has a dilated aortic root and is being treated as if he has Marfan Syndrome but the diagnosis hasn't yet been made. Is it safe for him to take Vyvanse (30 mg per day for a weight of 116) for ADD? Also, my father has an Abdominal Aortic Aneurysm (stent now in place), is this related to Marfan Syndrome?

Dr__Svensson: I cannot make any comments about medications since at this time we are unaware of any medications that increase the risk of aortic complications. However, the GenTec trial may find some associations. Your father's aneurysm is probably not related although the second most common site for aneurysms in patients with Marfan Syndrome is the abdominal aorta.



Genetic Testing and Heredity

bacbac: CCF has operated on father, brother, and father's brother, all had dissecting aortic aneurisms. Brother died this year from it. Dr at CCF said this was hereditary. No one has any other Marfan Syndrome traits (short, round) - is this Marfan Syndrome or is there another type of dissecting AA that is hereditary?

Dr__Svensson: There are other types of hereditary aortic dissection and in some patients they can appear to be entirely normal looking, particularly inherited thoracic aortic dissection. The only test that has shown to be of some value is if on blood testing, the mutation is found for the inherited disease. not all families however, are found to have the particular mutation. There are undoubtedly many mutations that are still to be discovered.

sadieg: I have Marfan Syndrome ...son died w/ aneurysm....I have chronic afib & on beta blockers is that good

Dr__Svensson: I presume you are regularly followed by a cardiologist. Atrial fibrillation typically is controlled with multiple medications and I presume he has discussed this with you.

Yram22: Two years ago my 21 year old daughter had her wisdom teeth out, gum infections c. difficile, was on metronidazole, later felt something happen in her neck, has had left sided paresthesias since then, and facial pain ongoing, dry eyes so now has punctal plugs, no help. She is 5'9" and can do the 'thumb sign' and almost the 'wrist sign' for Marfan Syndrome, she is tall, slim, crowded teeth, left shoulder dislocated. All doctors keep saying it's not vascular or heart related, but she was born with 'stork bites' on the back of her neck and also some 'bruising' under her tongue but then that all went away. Her doctors at the time said if later she ever had strange things happen, to mention to the doctors to see if it's vascular....could it be Marfan Syndrome or a related vascular issue causing her symptoms? First MRI was normal, awaiting second MRI as the facial pain started after that, ruled out C1C2 instability with x-rays. What can we do to get her some answers? Thank you so much for your help.

Dr__Svensson: The situation sounds fairly complicated and I would recommend she gets evaluated by an experienced geneticist who deals with connective tissue disorders.

gstamm: An 18-yr old with an enlarged aortic root and mixed signs of Marfan Syndrome: is surgery only recommended to repair the situation?

Dr__Svensson: We only recommend surgery when the size of the aorta is about 5 cm or the cross sectional area in square cm divided by the patient's height exceeds 10.

VeggieFan: I had Aortic Dissection surgery in 2005. Marfan Syndrome is suspected, due to other symptoms (scoliosis, tall with long appendages, etc). Before Dr Svensson performed my surgery, he took my mother's hands in his and said that this genetic disorder is passed on by the female parent. This statement has bothered my family a lot, since none of my mother's family has any symptoms at all - but there are many many Marfan Syndrome -related issues (although not confirmed) on my father's side. Also, the Marfan Syndrome Assoc website says this disorder can come from either parent. Does Dr Svensson still feel that this disorder is maternally transferred? Thank you.

Dr__Svensson: I trust you continue to do well. As far as the comment about maternal transfer of Marfan Syndrome, somehow I must have been misunderstood. Either a mother or father may pass on Marfans but in approximately a quarter of patients (26%) in one study there is no family history of Marfan Syndrome. There has been reported an association with older fathers and spontaneous Marfan Syndrome. I apologize for the misunderstanding.

bacbac: Is it a good idea to get the 9p21 genetic testing done when there are 3 close relatives who have had aortic aneurisms?

Dr__Svensson: If you want to trace the gene through your family tree, then it would be useful. However, from a treatment point of view, we still rely on the size of the aorta. For family members with a suspicion for Marfan Syndrome I would recommend at least a transthoracic echo.



Diagnostic Testing

mllsrcs: I am a 46 year old women, 5'8" and I was diagnosed with Marfan Syndrome over 4 years ago. Echo done then had a measurement off my Aorta at the level of the sinuses of Valsalva Z score -3.95, the dilated root measured 30mm at the sinotubular, a small trace of aortic valve regurgitation, the ascending aorta in the "long axis" was at 37mm with a score of 4.7. My last echo measurement this year was 4cm at the aortic root at the sinuses of Valsalva, 3.6 sinotubular junction, 3.7cm ascending aorta. I am a bit confused because this past echo showed no signs of aortic valve regurgitation. I would like have elective surgery . How fast do you think it might grow or not grow.

Dr__Svensson: Concerning your aortic valve leakage, I would not put much store to the difference between trace and none. There can be minor variation on echo. As far as your aortic size, based on what you report, I would not recommend surgery unless you get up to about 4.8 cm or develop marked aortic valve regurgitation. In younger patients who are still considering a pregnancy or have a history of aortic dissection in the family then we would consider earlier intervention. Similarly, in patients with Loeys Dietz we operate earlier.

powell9376: I was clinically diagnosed with Marfan Syndrome in May of this year. I have had an echo done and it came back normal. Should I assume that Marfan Syndrome isn't affecting my cardio and not get any more echos done?

Dr__Svensson: If you have been definitively diagnosed as having Marfan Syndrome, you should never stop having echos - the only issue is how often. I would recommend at least every 2 years because I have seen patients go into their 70s before they develop the aneurysms.

gstamm: How is an aneurism detected? Are there outward signs obvious to the patient?

Dr__Svensson: No - not typically. They are detected by echo or CT scan.



Symptoms and Related Conditions of Marfan Syndrome

taylormary: I have marfan syndrome per the Cleveland Clinic. Does my hip pain, which the doctor said is bursitis, have anything to do with marfan syndrome?

Dr__Svensson: This is really an orthopedic surgery question but yes, patients with Marfan Syndrome have what is called acetabular protrusio which may predispose to hip pain.

LindaR: I have Marfan Syndrome .....one son died w/ aorta aneurysm & a 2nd nearly...now with heart valve & coumadin. I have not had the aorta enlargement, but have dural ectasia and chronic low back pain with numbness in feet/legs, some in buttocks and thighs. Can the cysts be pressing on nerve roots to cause these problems? I am female & 70 yrs old. I also have chronic Afib.

Dr__Svensson: This is outside my area of expertise but patients with Marfan Syndrome do undergo surgery for spinal problems and I would recommend you see a special spinal institute or center.

arthurrl: I was diagnosed with Marfan Syndrome 15 years and have had IBS most of my adult life. Is it likely that they are related?

Dr__Svensson: It may be related but more typically IBS and bowel problems are associated with Ehlers Danlos.



Research and Marfan Syndrome

BridgetD: Are there free clinical trials for Marfan Syndrome?

Dr__Svensson: The early trial that was running was the Losartan trial but that has completed enrollment. In addition, in patients undergoing surgery, aortic specimens are collected at some centers for the GenTac study. You can check out clinical studies at www.clinicaltrials.gov



Treatment of Marfan Syndrome

gstamm: If an 18-yr-old with an enlarged aortic root has inconclusive Marfan Syndrome signs (including genetic testing), how should diagnosis and treatment proceed?

Dr__Svensson: The most important factors to watch are rate of growth of the aortic root and absolute size. Depending on the situation the criteria for surgery would probably still be 5 cm.



Surgical Treatment of Marfan Syndrome and Aorta Surgery

Thidwick50: Dr. Svensson, is the formula you use in determining when an aortic root replacement is needed for Marfan Syndrome patients (area of aorta divided by height in meters) useful in adults with other congenital heart defects? My son had patch repair of coarctation of aorta as a baby, is now 5 foot 10 inches tall, and has a root measuring 4.4. My math says this would mean he should be considered for surgery, if your formula applies. He also has a well-functioning but bicuspid aortic valve and is otherwise perfectly healthy and asymptomatic.

Dr__Svensson: That is a good question and generally we don't have good data on patients with congenital heart disease and when we should operate on them. However, for patients with bicuspid valves, we use the same formula in adults.

saraS: how important is it to have a surgeon operate on ascending aorta aneurysm who is skilled in connective tissue disorders if one has such a disorder

Dr__Svensson: There are a number of centers around the country that have a large experience with operating on patients with connective tissue disorders. On average, a surgeon in the United States only does 8 isolated aortic valve replacements a year. In the hands of surgeons who do not do much root surgery the likely operation that will be offered is a mechanical valve composite valve graft requiring a lifetime of coumadin anticoagulation. In experienced centers, the likelihood is better than 90% that you will receive a David Reimplantation operation and not have to be on coumadin.

Jane_R: Has any one particular doctor performed numerous endoscopic aneurysm repair of the aortic arch? My husband has a dissected aorta, a St. Jude's valve and various other complications. The Gore-Tag graft was recently approved for use. Has the CLINIC performed or been involved? His aortic arch aneurysm is approx. 6.cm and requiring repair. THANK YOU.

Dr__Svensson: As a generalization, we do not use stent grafts in patients with Marfan Syndrome - or - with chronic aortic dissection because the early and long-term results particularly with arch procedures have not been good.

carola1967: my aortic valve this past April was 1.0 is this low enough to consider surgery

Dr__Svensson: I presume you have aortic stenosis with a valve area of 1.0. By definition this is severe aortic valve stenosis. If you do not have symptoms, we typically would not recommend surgery. If you do have symptoms, surgery would be recommended.

gstamm: Is aortic-root surgical repair an "open-heart" type surgery?

Dr__Svensson: Yes - it is open heart surgery.



Type B Dissection

sagaboy67: On average, how long might it take for a Type B aortic dissection to organize itself or heal?

Dr__Svensson: Type B aortic dissection usually stabilize by 6 months if they are less than 4 cm in diameter. Above that size, the tendency is for them to grow.

sagaboy67: Is it possible for future Type B dissections to take place in patients already afflicted with a previous dissection?

Dr__Svensson: That is a perceptive question. We have noted and described that in Marfan Syndrome patients they can develop a secondary aortic dissection of the descending aorta resulting in a triple lumen aorta. This is uncommon in Marfan Syndrome and I have never seen it happen in somebody who did not have a connective tissue disorder. My best advice would be to have your blood pressure carefully controlled and if you develop an aneurysm, to be evaluated for possible surgery.

sagaboy67: Does any data on life expectancy exist on post Type B dissection by using medical management (strict blood pressure control)?

Dr__Svensson: The life expectancy data of type B dissection is somewhat murky because it is influenced by the early period after the dissection and other interventions. The survival curves would suggest that in patients with stable dissections beyond 1 year, the survival was very good.

sagaboy67: What is meant by the last part of your response below, I ask this because I was of the view that Marfan Syndrome was a connective tissue disorder.

Dr__Svensson: This is uncommon in Marfan Syndrome and I have never seen it happen in somebody who did not have a connective tissue disorder. The original question was: sagaboy67 asks: Is it possible for future Type B dissections to take place in patients already afflicted with a previous dissection?

Yes - that is what I meant - that patients with connective tissue disorders, particularly Marfan Syndrome can have a second dissection.



Treatment After Stents

carola1967: I had two metal stents put in 4 yrs ago on the descending aorta, and now have been told one of them has collapsed....is this common ..I am very scared

Dr__Svensson: Collapse of stents is somewhat unusual. However, I presume the stents were put in because you had inadequate blood flow in your true lumen (opening) with distal so called ischemia (lack of blood supply). I would recommend that if you have evidence of ischemia you be re-evaluated for this. If you don't have an aneurysm it is unlikely we would do anything further.



Marfan Syndrome in Babies

sagaboy67: What is the recommended age for an 8 month old baby diagnosed with Marfan Syndrome to commence treatment?

Dr__Svensson: I would suggest you contact Dr. Hal Dietz at John Hopkins and discuss with him this unusual situation.



Vasovagal Syncope

charley21987:  I was diagnosed with Marfan Syndrome at age 5, had valve sparing surgery at age 14, I am now 24 and was diagnosed with vasovagal syncope this year. Is this common for Marfan Syndrome and do you have any recommendations as a specialist as to how this should be handled?

Cleveland_Clinic_Host: We asked Dr. Fred Jaeger, Director of our Syncope Center your question. He stated:

Marfan syndrome is commonly associated with various types of dysautonomia which could result in reflex syncope.  In addition surgical treatments for Marfan Syndrome may have a predisposition for syncope from other causes.  I would suggest you see an electrophysiologist.



Exercise and Marfan Syndrome

Overandunder: It has been suggested that Marfan Syndrome patients with aortic root enlargement can exercise safely if they can still carry on a conversation while doing so. The Bethesda Guidelines suggest not exceeding a VO2 max of 40%. Is it safe to undergo exercise testing in a protected environment where a pt can learn at what level to safely exercise? Is Cardiac Rehab an applicable regimen for these pts? Are we doing a disservice to these pts by not giving them an individualized exercise prescription?

Dr__Svensson: I am unaware of any good data on the safety of particular exercises in patients with Marfan Syndrome and especially VO2 max. The common denominator that seems to be present in patients who develop aortic dissection and who have Marfan Syndrome is that they are doing rapid upper chest movements while straining. For example, basketball; baseball; swinging an axe; golf; free style swimming.

EllaS: Hello Dr. Svensson, Question: Is reformer pilates (isokinetic or istonic) exercise healthy for the heart? If I wear a heart monitor and my heart rate stays below 100 beats per minute, is that a good rule of thumb that I am not putting extreme pressure on my aorta? About Me: I am 28 years old and have Marfan Syndrome. I have mild mitral valve prolapse. I have also had 4 collapsed lungs. Thank You!

Dr__Svensson: as far as specific exercises, see my comments above. I recommend that patients walk 45 minutes a day 5 times a week for the basic cardiovascular exercise. Using an elliptical machine or treadmill would be similar. The main thing is to avoid straining of the upper chest and lifting things that cause your intra-aortic blood pressure to rise. So, pulling pulleys and straining the upper chest should probably be avoided.

Due to the many questions during this chat – we asked Dr. Gordon Blackburn , Program Director of Cardiac Rehabilitation to address exercise and Marfan Syndrome.

Dr. Blackburn: Marfan Syndrome is a genetic disorder that effects the connective tissues of the body including the heart valves and aorta.  High intensity exercise (especially those that increase the mean arterial pressure which stresses the walls of the aorta and the valves), exercises with increased risk of trauma/collision and/or ballistic type exercises are to be avoided.

Yoga and Pilates: Certain yoga positions and Pilates exercises may be appropriate but activities should be performed in a gentle, rhythmical nature and holding breath and straining should be avoided.  The person's underlying strength/flexibility, the number of Pilates springs and the degree of static (isometric) force generated in the pose effect the appropriateness of the activity. 

VO2: The Bethesda Guidelines are designed to guide participation in competitive sports.  The guidelines focus on individuals who participate in organized sports, who put a high premium on success, who compete regularly and who are engaging in regular (intense) training.  The guidelines have been extrapolated to the recreational athlete as well as vocational endeavors that have a significant physical component. 

Based on the Bethesda Guidelines individuals with Marfan Syndrome may participate in activities that require <40-50% of their peak VO2 (This is a dynamic value that changes with conditioning/deconditioning and is specific to each individual.  Peak functional capacity (peak VO2) can be determined by a medically supervised/monitored exercise test.  The talk test (able to say at least one normal length sentence without stopping to take a breath) is a good rule of thumb to guide intensity.  Activities should also require <50% of their Maximal Voluntary Contraction (MVC) (the heaviest weight the can be lifted for a specific activity once or the highest static force generated during a contraction.....this should not be performed directly by individuals with Marfan Syndrome but can be approximated by finding a weight that can be lifted approximately 20-25 times (reps) before experiencing local fatigue.)...However if the individual has an aortic root dilatation of >40 mmHg, moderate-severe mitral regurgitation, a family history of aortic dissection or sudden death or prior surgical reconstruction of the aortic root, the static component should be reduced to 20% of MVC (or weights that can be lifted >50 repetitions before experiencing local fatigue for the specific activity).

Contact sports: Individuals with Marfan Syndrome or post surgical reconstruction of the aorta should not participate in activities with a high potential for bodily collision, either with another person, object or the ground.

Activity guidelines: Activity guidelines must be tailored to the individual to optimize benefits while minimizing risk.  Walking, cycling, elliptical machines may be excellent modes of exercise when the intensity is appropriately adjusted.  

It is also important to note that lack of exercise also carries risk.  A sedentary lifestyle leads to deconditioning and possible weight gain.  With deconditioning the relative cost of all activities will increase and regular tasks may exceed the 50% recommended limit, so finding the right activity and regular participation, along with weight control and blood pressure management are essential to long term health.

Because of the relatively high risk of aneurysm, dissection and sudden death, patients with Marfan Syndrome should routinely follow up with their cardiologist to establish and modify any activity plans.



VeggieFan: Thank you for this chat today, Dr. Svensson - It has been very helpful!

carola1967: thank you for hosting this

ellawb: Hi Dr. Svensson Thanks for bring here!

sagaboy67: Thank you for your time Dr. Svensson, your web postings motivated me to use Cleveland Clinic for my recent aortic root and valve repair. Thanks again!

Dr__Svensson: Thank you for your note. Hope you are doing well.


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