Marfan Syndrome: What You Need to Know About This Connective Tissue Disorder (Dr Svensson 3 23 10)
Tuesday, March 23, 2010
Lars Svensson, MD, PhD
Center for Aortic Surgery and Director, Aorta Center, specializing in the treatment of Marfan Syndrome and Connective Tissue Disorders Cleveland Clinic Department of Thoracic and Cardiovascular Surgery
Marfan syndrome is a condition that affects the connective tissue. Connective tissue holds the body together and provides support to many structures throughout the body. With Marfan syndrome, the connective tissue isn’t normal. As a result, many body systems are affected, including the heart, blood vessels, bones, tendons, cartilage, eyes, nervous system, skin and lungs. Due to the complexity of this condition, it requires a specialized and experienced approach to care. Take this opportunity to chat live with marfan syndrome expert Lars Svensson MD, Director of the Aorta Center, specializing in the treatment of Marfan Syndrome and Connective Tissue Disorders.
Cleveland_Clinic_Host: Welcome to our Online Health Chat with Cleveland Clinic cardiac surgeon Dr. Lars Svensson. We are thrilled to have all him here with us today. Let’s begin with the questions.
Speaker_-_Dr__Lars_Svensson: Thank you for having me today.
Marfan Syndrome Diagnosis
JOAN2708: I HAVE A 50YR.OLD DAUGHTER, SHE HAS SOME OF THE SIGNS OF THIS SYNDROME, EX; TALL 5'10, VERY LONG FINGERS AND TOES, FLAT FEET, EXTENDED RIB CAGE, HIGH NARROW PALATE, HER HEALTH IS FINE, BUT RECENTLY IS COMPLAINING OF BACK & KNEE PAIN. SHE WOULD BE EXTREMELY SENSITIVE IF I HINTED THIS TO HER, I WOULD APPRECIATE ANYTHING THAT YOU COULD ADVISE. THANK YOU, JOAN
Speaker_-_Dr__Lars_Svensson: I would advise that she see a rheumatologist and suggest that she have an echocardiogram at the same time. This would be a wise combination of studies to do at the same time.
jon_f: I have Marfan Syndrome and many signs and symptoms. How do you coordinate appointments at your center with a cardiologist, ophthalmologist, someone for headaches?
Speaker_-_Dr__Lars_Svensson: We schedule for patients to see a cardiologist, geneticist, ophthalmologist, and myself during the same day. If you need to see a neurologist, we could probably arrange for that also to be on the same day.
rgsmith52: I have an aunt that had Marfan and my sister has Marfan. What’s the best way to test if I have Marfan?
Speaker_-_Dr__Lars_Svensson: Clinical examination; an echocardiogram; and if you have musculoskeletal signs - then also a CT scan of the chest, abdomen and pelvis.
osufan: Hi, I have Marfan syndrome. I am 22 years old. My doctors have been following my aorta - it has remained about 4.5 - 4.7. What test is the most accurate in evaluating the aorta - an echo, MRI or CT?
Speaker_-_Dr__Lars_Svensson: CT scan, however, you don't want to - at your age - to have repeated CTs. So, for following you, MRI is the best test.
amk: to avoid having too many ct scans for a young Marfan patient, if MRIs are used to monitor, would the information be less accurate or different?
Speaker_-_Dr__Lars_Svensson: For following patients the MRIs are sufficiently accurate.
daisy80: My sister is 17. Her aortic root is 4.8. She is 5 foot 10 and weighs 128 -when should she be evaluated by a heart surgeon. She has started to have pains in her chest sometimes. She is restricting her activity. Anything else she should do?
Speaker_-_Dr__Lars_Svensson: She should be evaluated now.
Marfan and Genetics
cycle_will: Can you explain familial aortic aneurysm (FAA). I have had aortic valve and aortic aneurysm surgery in the past and I wonder if I could haves something like this - since I tested negative for Marfan.
Speaker_-_Dr__Lars_Svensson: there are blood tests that sometimes are positive for other genetic mutations other than Marfan Syndrome. Your geneticist would be able to help you with this.
JOAN2708: NO ONE IN MY FAMILY HAS EVER HAD MARFAN, CAN THIS BE ISOLATED OR IN THE GENES?
Speaker_-_Dr__Lars_Svensson: Yes. 25 percent of patients with Marfan Syndrome have no family history and it may be associated with an older father.
david_fj: I have a classic Marfanoid habitus - long slender thin body, long limbs, joint laxity, pectus excavatum, thin weight, low muscle mass, crowded teeth, flat foot, scoliosis, etc. I have seen an ophthalmologist and do not have any eye issues. It seems to only be limited to musculoskeletal issues only. Interestingly I get soft tissue injuries somewhat easily, suggesting to me a potential connective tissue disorder. I get echos every year as a precaution to make sure there is no enlargement of the aorta due to frequent unexplained chest pain. Do you suggest I continue getting yearly echos as a precaution? Also do you have any recommendations on what I should look out for as a preventive measure? Should I see a geneticist?
Speaker_-_Dr__Lars_Svensson: You definitely need to see a geneticist and have a full work-up. Based on your description, I would continue with yearly echos.
pambam: how accurate is genetic testing for Marfan's syndrome?
Speaker_-_Dr__Lars_Svensson: The problem with genetic testing for the mutations of Marfan syndrome is that there are more than 2,000 mutations that may be the cause and there is very little overlap. So - blood testing has not been very productive but for Loeys Dietz syndrome, it is very useful.
Symptoms of Marfan Syndrome
JOAN2708: WHAT IS THE FIRST INDICATION OF MARFAN?
Speaker_-_Dr__Lars_Svensson: The first indication of Marfan is often a complication such as dislocation, hernia, joint laxity, eye complications, dental crowding, or a collapsed lung. However, an alert doctor should on examination pick up the body habitus of somebody with Marfan syndrome. Clearly, if you have a family history of Marfan Syndrome, then that would be a strong warning sign.
kjfowkes: I have Marfan and this condition runs in my family. My father died from this in his 50s. I have frequent PVCs and a dilated aortic root. I am being treated with medication for my PVCs but could they be caused by the aortic root? Or the Marfan? When do you have surgery for someone
Speaker_-_Dr__Lars_Svensson: When the aorta is particularly large, then it can cause PVCs but this is uncommon. If your aorta is more than 4.7 cm, or has a ratio of more than 10 (see above), then you should be more fully evaluated for potential surgery.
RamA: A 34 YEAR OLD MALE, WITH MARFAN SYNDROME, HAD AN AORTIC DISSECTION ,BEGINNING BELOW TAKEOFF OF THE LEFT SUBCLAVIAN ARTERY. DISSECTION FLAP EXTENDED DISTALLY AND TERMINATED AT THE TAKEOFF OF THE SUPERIOR MESENTERIC ARTERY. NO EVIDENCE OF AORTIC LEAK OR RUPTURE OR ANEURISM. NORMAL MITRAL VALVE. TREATED CONSERVATIVELY FOR ONE YEAR. BP CONTROLLED WITH BETA -BLOCKER AND ACE. CAN ANYTHING BE DONE TO AVOID ANY PROBLEMS IN THE FUTURE? PLEASE SUGGEST A DOCTOR APPROPRIATE FOR THIS PATIENT'S CASE. THANKS RAM
Speaker_-_Dr__Lars_Svensson: We recommend medical treatment for uncomplicated type B aortic dissection that is aortic dissection arising beyond the left subclavian artery. However, patients need to be carefully followed and if the aorta should grow to approximately 5.5 cm, then we would recommend surgery to replace the enlarged segment. In some patients with Marfan Syndrome and who have also an enlarged ascending aorta, we would consider replacing the ascending aorta and the aortic arch. And - doing an elephant trunk procedure at the same time.
amk: My husband has Marfan Syndrome. He has had 4 surgeries to replace his entire aorta and aortic valve. Additionally, he has a small dissection in his left subclavian artery coming off of the heart that is being monitored. What would treatment for this entail if the dissection extends or an aneurysm forms? We haven't been able to find much information about Marfan and the subclavian arteries - can you provide any info on this? Who would perform this type of surgery? Also, can you offer any physical activity guidelines for him given his history, artificial aorta and present condition?
Speaker_-_Dr__Lars_Svensson: A residual dissection of the origin of the left subclavian artery is quite common after patients have had extensive aortic replacements. In many patients I will do a separate bypass to the left subclavian artery at the time of surgery and that makes it easier to just stent any residual dissections. It is quite rare for this to cause a problem. If he has no residual aneurysms, then for most patients I will tell them they can do whatever they like as far as physical activity.
amk: thank you for your answers regarding my husband who has a residual dissection of the left subclavian likely due to his extensive aortic replacements. you mention that you typically do a bypass at the time of surgery to make stent possible for future repairs. Given that he did not have this bypass done at time of surgery, what would treatment involve if left subclavian dissection worsens? if he does not yet have an aneurysm in the left subclavian, can physical activity have an adverse effect on his artery? what level of beta blockers do you recommend?
Speaker_-_Dr__Lars_Svensson: In patients with residual dissection we don't do anything further unless they grow to about 2.5 - 3 cm. Treatment would then depend on the situation. The options are: stenting or open surgery.
smith22: Can you tell me at what size does an aortic dissection need to be operated on with someone that has Marfan Syndrome?
Speaker_-_Dr__Lars_Svensson: All patients with aortic dissection involving the ascending aorta and aortic arch need to be repaired if the patients have not had previous surgery on the aorta. For patients with dissection beyond the left subclavian artery, and they are not complicated, we typically wait until the aorta gets to 5.5 cm. Unless - there is rapid growth.
moncrief: My husband is an engineer. a couple of months ago he read an article from England about an invention to prevent aortic dissection in Marfan through this netting device. Is this in the process of FDA approval in the US?
Speaker_-_Dr__Lars_Svensson: I am aware of this device and would not recommend it and it is definitely not FDA approved.
new8370: Can you explain what an aortic dissection is and what it means in the case of Marfan Syndrome?
Speaker_-_Dr__Lars_Svensson: Aortic dissection is when the layers of the aorta split to form eventually two separate tubes. The problem with this is that 40 percent of patients die immediately when it happens and the risk of death is 1 to 3 percent per hour until patients have surgery. The risk of death with surgery is increased compared to elective surgery and long term patients will require typically multiple operations. Therefore, it is very important for patients with an enlarged aortic root to have elective surgery before aortic dissection occurs.
Marfan Syndrome surgery
jebasques: Dear Dr. Svensson. I have a brother who has been recently diagnosed with Marfan syndrome. He is 33 and the last echocardiogram shows an aortic root 59mm wide. We are very concerned about his health because our father also had Marfan syndrome and died at the age of 42 of a pericarditis following valve replacement surgery (Bentall procedure). This has increased our interest in the modified David's technique, that you have performed with excellent results. My question is: What conditions are necessary for the modified David's technique to be a feasible option? Thank you very much for your time. PS: I believe my brother has already contacted International Patient services and requested a second opinion where you will find detailed medical information.
Speaker_-_Dr__Lars_Svensson: With your brother's aorta being 5.9 cm, and presumably of about 6 feet, we would definitely recommend surgery. Generally, we work out a patient's ascending aorta or aortic root cross sectional area; that is phi r squared and divide that by the patient's height. If that ratio is more than 10, we recommend surgery for both Marfan patients and Loeys Dietz patients. The same applies for patients with bicuspid valves.
You're correct that the results of the Modified David reimplantation operation are excellent and we have done some 260 patients without losing a patient after surgery. In addition, the long term durability is also excellent, with 98 percent of our patients alive at 9 years after surgery and 96 percent free from needing an aortic valve replacement for a failed repair.
When I see patients I tell them they have 95 percent likelihood that we can do a David Procedure as long as they have not had previous heart surgery or aortic dissection. In the small number of patients that we cannot do a David it is usually because the tears or perforations in the leaflets are too large to repair.
luingxstitcher: What are your thoughts on repairing a moderate/severe mitral prolapse at the same time as repairing the aorta? Would this increase the risk? Thank you
Speaker_-_Dr__Lars_Svensson: We frequently do mitral valve repairs at the same time as doing modified David reimplantations. The obvious benefit is that both valves are repaired and the patient does not need to be on coumadin. Analysis of our data in patients who have had both combined show that the results out to 5 years are better than having either valve repaired or both valves replaced in comparison to repairing both valves. We don't believe there is a significant increase in risk to do both valves.
mitogirl: after Open Heart Surgery I am being plagued with blood clots in my lungs and legs. Any I idea why this is happening?
Speaker_-_Dr__Lars_Svensson: I would be surprised if you are having that after Marfan surgery. I would recommend seeing a hematologist since patients with Marfan Syndrome are more prone to bleeding.
warrior: After having the elephant trunk procedure I continue to have pain in my left side and now down my right leg. What treatment is recommended for this? Also, with an artificial aortic valve and my history- what is recommended as far as exercise? Thank you.
Speaker_-_Dr__Lars_Svensson: Left sided pain after a second stage elephant trunk procedure as with all thoracotomy incisions can be a problem in about 1 in 20 patients. We usually have patients see the pain clinic for this and usually a nerve block controls the pain. If you have no aortic dilatation I would not restrict your activities. Check with your doctor first.
jean1226: My son has a dilated aorta with a leaky aortic valve and the valve we just found out is bicuspid. What are his surgical options. We have Marfan syndrome in his family.
Speaker_-_Dr__Lars_Svensson: If he has a bicuspid aortic valve and no Marfan Syndrome, I usually repair the bicuspid valve and replace the enlarged aorta. This has a 91 percent freedom from further surgery out to 9 years in our hands.
sbaker: I have a bad aortic valve and enlarged ascending aorta. Can they do both surgeries in the same surgery? Do they ever replace the rest of the aorta just to prevent problems with the rest of the aorta?
Speaker_-_Dr__Lars_Svensson: Doing both depends on the CT scan findings. Generally descending aorta and aortic valve replacement or repairs are not done at the same time. We don't replace nondilated segments of the aorta because of the added surgical risk.
swim4life: I am 45 years old - I was diagnosed with Marfan syndrome 15 months ago after having irregular heart rhythms. An echo found I have a bad mitral valve. What is the incidence of Marfan Syndrome needing surgery?
Speaker_-_Dr__Lars_Svensson: In women, surgery for mitral valve leakage is more common than men with Marfan Syndrome. However, aortic valve surgery is much more common.
Marfan and Activity
kbheart: If my ascending aorta has already dissected and been repaired do I still need to worry about keeping my heart rate under 110 for exercise?
Speaker_-_Dr__Lars_Svensson: That is a difficult question to answer and it depends what the size of your residual aortic dissection is and whether you have hypertension or evidence of ongoing growth of the residual dissected aorta
kbheart: Are there any sexual limitations when one has Marfan?
Speaker_-_Dr__Lars_Svensson: No - not unless you have significant aortic dilatation.
Marfan Syndrome and Medications
law705: What is the most effective beta-blocker available for Marfan s/s?
Speaker_-_Dr__Lars_Svensson: We don't know which is the most effective beta blocker however of more interest will be the results of the Losartan Trial that I have been involved with. We may find we will change our management of patients with aortic dilatation and also for patients who have had surgery once the results become known.
Other Marfan Syndrome Questions
warrior: In general, what is the life expectancy of a patient with Marfan with good medical care?
Speaker_-_Dr__Lars_Svensson: If a patient has a modified David Procedure the expectation is that patients will have a normal life expectancy. However, if aortic dissection has already occurred then life expectancy is reduced.
mitogirl: What effect does Marfan have on the skin ?
Speaker_-_Dr__Lars_Svensson: Marfan Syndrome affects all elastic tissue in the body and so the skin is also affected. Typically what is noticed is that scars become bigger than normal.
mitogirl: Can Primary Pulmonary hypertension be related to Marfan?
Speaker_-_Dr__Lars_Svensson: That is rare but if somebody has leaking valves then it can certainly occur at the same time.
kbheart: Can stretching exercises help alleviate pain due to dural ectasia?
Speaker_-_Dr__Lars_Svensson: It is better to speak to an orthopedic or spine surgeon regarding this question.
Cleveland_Clinic_Host: Unfortunately, Dr. Svensson has been called to surgery and we will have to cut our chat short today. Thank you for participating and we apologize we had to cut our time short.
Extra Questions Answered By Dr. Svensson Post-chat
How long do you think it will be until they find a replacement drug for coumadin that can be used with mechanical valves?
Speaker_-_Dr__Lars_Svensson: There is one that works fairly well but it is very expensive.Coumadin is hard to beat for what it does.
My older sister has Marfans and my younger brother has it too. I have some of the signs of Marfans - like I am double jointed and I am over 6 foot tall. I have not been diagnosed yet and I am a runner. I run almost every day and have run in 5 k s and hope to run a half marathon this summer. Is that a problem?
Speaker_-_Dr__Lars_Svensson: Running is fine.
Should I go through testing to find out if I have Marfans first. What steps should I take?
Speaker_-_Dr__Lars_Svensson: Needs echo at least to check root.
My niece has several of the symptoms of Marfans, tall, slender, pectus carinatum, etc. She had surgery for the pectus there in Cleveland in December. She continues to have a lot of issues with her chest. She's never been worked up for marfan's by a geneticist. If she does have Marfan's, could this effect her healing time?
Speaker_-_Dr__Lars_Svensson: Scarring is often worse with Marfan. Needs to have echo.
Is it hard for people with Marfan to heal?
Speaker_-_Dr__Lars_Svensson: No, just scars are often broader.
How often should one have a CT or MRI scan after having the aorta and aortic valve replaced?
Speaker_-_Dr__Lars_Svensson: Depends on what was done and if aortic dissection was present. Usually MRI every 2 years or so.
It has been written that Michael Phelps has Marfan, or symptoms of it. How can he train as he does, when most people are told to restrict activity?
Speaker_-_Dr__Lars_Svensson: That has been reported but I am sure his aortic root size is being monitored.
Can Marfan have any connection with the brain?
Speaker_-_Dr__Lars_Svensson: Yes. There is some evidence of maybe a higher risk of intracranial aneurysms.
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