Thank you so much for this wonderful forum. My daughter, who just turned 10, is extremely active--on a swim team and a runner. For the past 2+ months, she's complained that her "heart hurt" (an "ache and a burn" directly over her heart). She has also had a few incidents where she felt her heart was "racing" or "pounding out of her chest"(130 bpm max, however), and she has lightheadedness and pain at the same time. Not brought on with exertion or anxiety--both at school and home. Pediatrician did an exam and EKG and sent it to the Children's Heart Clinic with a referral. Met w/the cardiologist there last week, and he said the EKG/exam normal, and the racing heart not a problem, unless it goes up to 200s. Painpain was probably benign. To be safe, he ordered an echo.
Conclusions of echo:
1. The sinuses of Valsalva are diated for the patient's body surface area. Upper normal is 24 mm, and this patient's is 28 mm.
2. The main pulmonary artery appeared mildly dilated.
Dr. told us that he's not worried--just come every 1x every 2 years for echo. "No restrictions on activity, because if the aorta is going to erupt, it's going to erupt." I left rather shocked, and wished I had asked a million more questions. I'm wondering if this is a condition we should be worried about. Is there anything we can do to be sure it doesn't "erupt"? Should we limit activity? Is there anything else we should be doing? Should we get a second opinion? If this were your daughter, what would you do?Sorry for the long message, and THANK YOU in advance for your help. I really appreciate it.
I'm not a pediatric cardiologist, so this question is somewhat out of my field.
I think we are all very concerned when it comes to illness in our children so I understand your concern. I also understand how sometimes the wrong set of words can lead to undue worry in a parent or family member.
I think you should seek a second opinion. I can tell by the tone of your post that this will weigh heavy on your mind and heart until it's sorted out. If the second opinion concurs, it will be much easier to focus on the health of your child.
Get another cardiologist, PRONTO. Sorry, but that is hands-down the STUPIDEST thing I have EVER heard a cardiologist say. "If it's going to erupt, it's going to erupt?" Are you KIDDING me?!
A doctor that paid attention in med school would take steps to figure out the underlying cause of your daughter's dilatation, eg, connective tissue disease. It is possible that the dilatation is due to excessive activity, too, or a combination of the two. A more sensible approach would be to limit your daughter's physical activity so that it isn't extreme and to monitor her with echos YEARLY. One might prescribe beta blockers to slow the dilatation. If your daughter has a connective tissue disease like Marfan, she might qualify to participate in the Johns Hopkins clinical trials with the drug losartan, which is expected to halt or possibly reverse dilatation. Or, once the dilatation is severe enough, surgery is warranted. But "if it's going to erupt, it's going to erupt" is just unbelievably bad advice.
Please, please find another cardiologist. You are getting awful advice. And if you want my honest opinion, if I were in your shoes, I'd consider reporting the cardiologist to a governing authority. I wonder if any kids have died due to this kind of advice. Can you tell I'm furious?
Anyway, there are a lot of knowledgeable people on this board who will add their 2 cents. If you want to contact me directly (since this thread will eventually be closed to further comments), let me know and I'd be happy to share what I do know.
Agree with nickppatel, you should get a pediatric cardiologist who can work with you on the identification of the cause of the dilation, which is likely due to a genetic cause (FAA, Marfan's, Ehler-Danlos, etc.). I had surgery to fix my ascending aortic aneurysm at age 46, I then had my two kids get tested and we've been monitoring them, I have no concerns about their near-term condition or activity level. BTW, I have never read anywhere (and I've seen a lot of references on this condition) that "excessive activity" can cause aortic dilation, if such references exist, I'd like to read them.
Excessive exercise in those already predisposed to aortic dilatation, such as faxmom's daughter, can exacerbate the dilatation, due to hemodynamic stress on the weakened aortic wall. This is why most Marfan patients, EDS patients, LDS patients, or those with very large roots, etc. are placed on exercise restrictions as recommended by, for example, the National Marfan Foundation.
Kinoshita et al. published "Aortic Root Dilatation Among Young Competitive Athletes: Echocardiographic Screening of 1929 Athletes Between 15 and 34 Years of Age" a few years back. It is an interesting read and is available for free on medscape.
my apologies. i re-read my post and saw language that was misleading ... the excessive activity in and of ITSELF probably wouldn't cause the dilatation; the activity combined WITH a predisposing factor WOULD.
By the way, not all connective tissue disorders manifest with characteristic "Marfanoid" features. Does your daughter have widely spaced eyes and a split uvula? If so, she should be evaluated for Loeys Dietz syndrome. Does she have very loose, easy-bruising skin? She might be evaluated for Ehler-Danlos. It's very difficult to say without seeing her face/limbs.
I'm in the Minneapolis area, so I know that I can go to Mayo Clinic in Rochester, if necessary, or even Cleveland Clinic, if that's what I need to do. However, the cardiologist we saw made it sound like such a "no big deal" thing that I thought I must be just a overly protective/worried mom. Of course, as you can tell, I wasn't willing to simply let it go for another two years, without first checking around a little. As soon as I left the office and thought about some of his comments, I thought, "What normal mom WOULDN'T get a little worried about it?!"
Well, he's the doctor, not me, but *I* think it's something you should be concerned about and it's something worth seeking a second opinion over. Both the hospitals you mentioned are excellent places to take your kid.
I think you should probably wait to see what the forum doctor says, since he/she is FROM the Cleveland Clinic. That should be an indicator as to what you should do.
Best wishes, and if you have any more questions, feel free to ask...
Thank you so much for your comments. I think you're right. I should get a second opinion. There wasn't enough room to write everything in my post, but the Dr. did say that he often sees this with connective tissue disorders, like Marfan's, but it's "obvious she doesn't have Marfan's." I work with Medtronic (medical device company with lots of cardiac therapies, etc.), and I've actually met some patients with Marfan's. My daughter is petite--little feet, fine bones and has none of the facial features associated with Marfan's. I'm really not familiar with any of the other connective tissue disorders, but there are none--that I know of--in the family history. Do any of the others seem to fit the description? Also, I'm not familiar with how significant the dilation is. I saw that the report said the "high end of normal" was 24, so I'm not sure of the significance of 28? Does anyone else know? Thanks again. You are very kind to share your knowledge.
Any dilation of the ascending aorta that is accompanied by pain needs to be carefully evaluated by an aortic specialist because symptoms trump size, regardless of what that size is. Any dilation of the sinuses seen by echo needs to be followed up with a CT or MRA. Echos cannot always visualize the entire Ascending aorta. A possible "tissue disorder" to accompany a dilated ascending aorta (the sinuses are the part of the ascending just "downstream" of the aortic valve) is a bicuspid aortic valve--1-2% of the population has a BAV and some studies show that up to 50% of those are accompanied by an aneurysm.
Thank you for your responses. I was so hopeful to get some kind of an opinion from the forum doctor as to whether or not I should be worried about all of this, given the actual facts. However, I still don't know! Does anyone else know if this sort of degree of dilation is a big deal?
In my opinion, this degree of dilatation *IS* a big deal, and you SHOULD be concerned.
More accurately, this degree of dilatation is big-enough of a deal for you to seek a second opinion very soon. It needs to be examined by a qualified pediatric cardiologist, preferably at either the Mayo or Cleveland Clinics or even a large hospital like Univ. of Minnesota, as soon as possible.
If she was MY daughter, I would:
1.) Get the soonest available appt. with a pediatric cardiologist - do some phone work to find out what's the soonest available, and make sure to emphasize that she's having symptoms and the size of her dilatation to get in quicker.
2.) Seriously reduce her physical exercise until the condition if evaluated by a good, solid cardiologist.
Again, others may differ; that's what *I'd* do.
Don't stress yourself out too much over it. Worry is useless. Action is fruitful. It's disconcerting, but with proper medical care, everything should be fine. If she complains about severe pain, take her to the ER, but besides that, schedule and go to a good cardiologist, and everything will be OK.
I would also get a second opinion, the doctor is right, but but he has poor bedside manners, and should be relieved of his/her services. I would get another appointment, but this isn't a critical situation, so don't expect to be seen like tomorrow. It could happen, but not likely.
In other words, you have alot of time to deal with the situation. I'm talking in terms of months to years. There is no need to freak out right now. I don't believe they would be alarmed unless it was over roughly 4.0+ cm at her body size.
As far as the size of the aorta and pulmoary artery, they have things called z scores that calculate the appropriate size vessel measurments for the appropriate size body. We also measure the aortic root, sinus of Valslava and part of the ascending aorta to determine z-scores. There can be people who have Marfans while they don't outwardly have the typical Marfan like features. If you other cardiologist has any doubts, they'll refer you to a geneticist that can give you the skinny on the situation.
The aorta could rupture, but that could easily be years (20+) down the road, and this is at the very very earliest. I would also expect to be seen for an echo every year to check on the size of the aorta. She might get beta blockers (medicine) to take to help lessen the "load" on the aorta. She might have to take these for the rest of her life, but really that is getting ahead of things as they stand right now. As far as getting a CT or MRA like schmoomcgoo said, that probably won't happen either. Echo can generally see the area that is affected by Marfan's quite well. The echo would also be able to determine if the aortic valve is bicuspid or has three leaflets like it is supposed to.
As far as reducing her physical activity at this point, I wouldn't. Right now there isn't enough to make me think otherwise. She has a relatively long way to go before she gets into troublew aorta-wise. It might be a real possibility in the future (don't hide that from her), but for now, no.
Wow. VERY helpful information. THANK YOU! I think we'll go ahead with the second opinion--mainly because the cardiolgist we saw was so short with us, and we left with a million questions. It sounds like we would have a ways to go before rupture would be a true worry--that's reassuring. My daughter is currently training to run a 10k with her gym teacher in late spring, and I was about ready to put the breaks on that. I would feel horrible if anything we were letting her do contributed to enlarging her aorta further. She loves competitive swimming and running, but I'd be more than willing to try to help her find other activities, if her health is being compromised. Thanks again.
Hi there. Do either of you know where I might find a simple to read "chart" that shows "normal" ranges/sizes of aortas and pulmonary arteries? I've looked around a little, with no luck. I'm at ***@****. Thanks again.
I wrote a long response, but I think short is better - ask yourself - should you be interpreting and reading aortic dimensional charts for your daughter, or would it be better if you had a pediatric cardiologist who you trust and can communicate with, reading the chart and properly interpreting the data in the specific case of your daughter's condition?
I don't think you need a chart - you need a different doctor. I went through the same thing and drove myself nuts before I found a doctor that I could trust and communicate with.
No, your earlier response was not at all too long. I totally agree with you, and I already have a call into my daughter's pediatrician for a 2nd referral. I'm hoping we can get into Mayo. I'm sure I'll be met with some resistance, since Children's Heart Clinic has such a great reputation. When he gave us the referral, he said that "all of the doctors are great over there." At the same time, I really don't think that was the case for us. So, hopefully, it will go okay. I also want to continue researching the condition and understanding the "norms", since I'm better at asking the right questions, etc., when I'm totally prepared and have a good understanding of the condition ahead of the appointment. Make sense?
The z-scores are generally calculated in a formula, but to be honest, I don't know what the formul is, just what it does and how it is used. I would agree that it would be ultimately easier for you and your daughter to let the pedi cardilogist to put things in the right perspective given all of the information. ?Not to say that you can't read a chart or do a formula, but over the years I've learned that you need to take in a multitude of factors to come up with a safe and reasonable approach to the situation. These are the things that pedi cardiologists ( and the adult ones too) know that the general public doesn't know, and that isn't readily available for easy consumption on the internet. I hope this helps some more.
If your daughter is still having chest pain, I would try to get her in soon for the second opinion. I went to the ER with chest pain and they found a dilated aorta. They sent me home and told me that they would check it again in a year. It turns out that I was having chest pain because the dilated part of the aorta had already torn. Their tests missed the tear. My life was at risk for two weeks before they finally operated because they assumed my chest pain was just indigestion. Lots of people have connective tissue diseases like Marfan's without the outward appearrance of the disease, including me. Take any chest pain very seriously and make sure your physicians do too. Good luck! I wish you and your daughter the best.
faxmom, I'm providing this link with the assumption that you are taking pbanders' and echotech's sound advice to let the doctor interpret what is and is not an appropriate course of action. Unfortunately, some doctors - like my old cardiologist - are poorly equipped to deal with these kinds of issues, and you should be equipped to spot them a mile away. So, take this with a grain of salt. It's a chart for aortic roots only, not for pulmonaries.
Chest pain in general for children is completely different than adults with chest pain. The aorta is kind of the same game. They are very different animals, hence you won't see adult cardiologists treaing children, and vice versa. There are common exeptions but generally thats how it works. There are specially trained cardiologists that see both children and adults, but not very many.
Sorry to comment this way but you seem very knowledgable. I'll try to make this story brief. My son has always had mild hypotonia affecting fine motor skills, maybe also affecting comprehension level and a 2 year delay from an educational perspective. He is 12 yo. Throughout his life we have had 2 CT of the head. On both occasions the radiologist interpreted white matter migration. Pediatric neuro shrugged off as poor quality films. For the past 2 years I have quit searching for a diagnosis because he is developing and not regressing. However, last week became short of breath, irregular heart beat, and chest pain. Went to see MD. EKG and all electrolytes are normal but irregular rhythym could be heard. I beleive it is called sinus dysrrhythmia which is common in children. Referred to pediatric cardiologist, but after putting all symptoms together I am concerned about marfans. He is positive for the wrist thumb and wrapping small finger and thumb around wrist with overlap,right and left chest uneven at the sternum, tall, lanky, high palate, crowded teeth, Has braces. And just recently within past year developed major nearsightedness. We have been for eye checks numerous times with negative findings. He is 64in tall and arm span is 67in. No family history to my knowledge. I called my MD to mentions these things but he has failed to return my call. By the way he was stared on inderal 10mg twice daily. Are there enough red flags to harass my MD? I feel like a hypochondriac mother. Thanks for input.
All of the signs you mentioned can be attributed to different connective tissue problems. Many of those signs occur regularly in the general population. But, given the fact that they rarely occur together in this way in the general population, I would say yes, seek the opinion of a pediatric cardiologist knowledgeable re: marfan and related connective tissue disorders. It's so important that you visit a cardiologist who knows a thing or two about Marfan and who will take your concerns seriously. Many doctors take a look at a patient and if the patient doesn't fit the classic image profile they see in textbooks, they assume the patient doesn't have the condition. Stay away from these types of doctors.
If you tell me where you live (City and state), I can provide you with name(s) of doctors unofficially endorsed by the National Marfan Foundation. There, you are likely to be seen by someone who knows what he/she is doing, and can order the appropriate tests for you kid to see whether Marfan is truly a possibility.
:) No, not a physician, just a layperson. And you're welcome.
I couldn't find anything particularly close to Union City, TN, but here's a listing from the NMF. See the last paragraph for tips on finding someone nearby. Hope it helps - God bless, Nick.
The National Marfan Foundation has established a Professional Advisory Board (PAB) of medical professionals involved in either the diagnosis and clinical treatment of the persons the Marfan syndrome, research related to the Marfan Syndrome, or both. The following is a list of medical centers or institutions with which the members of our PAB are associated:
Center for Marfan Syndrome and
Related Connective Tissue Disorders
300 Pasteur Drive, Rm. H 2165
Stanford, CA 94305-5283
Clinic Coordinator: Sunny Pellone
Johns Hopkins Hospital
Center for Medical Genetics
600 N. Wolfe Street
Baltimore, MD 21287
Clinic located in Out-Patient Center
Clinic Coordinators: Gretchen Oswald and Amanda Bergner, Genetic Counselors
Washington University School of Medicine
Marfan Syndrome Program
Division of Cardiology
Barnes-Jewish Plaza, Ste. 16419
St. Louis, MO 63110
(314) 362-1291 Ask for Dr. Bravermans's Nurse
Toll Free (888) 210-8375 Ask for Dr. Braverman's Nurse
Nurse Coordinators: Dana Gima and Barbara Stehman
New York Hospital/Cornell Medical Center
Dept. of Human Genetics
525 East 68 St., Rm. HT-150
New York, NY 10021
Coordinator: Jessica Davis, M.D.
University of Pennsylvania
Division of Medical Genetics
1 Mahoney Building
36th and Spruce Streets
Philadelphia, PA 19104-4283
Clinic Coordinator: Lisa Kessler, Genetics Counselor
Joseph Coselli, M.D. (Cardio-thoracic Surgery)
Baylor College and Methodist Hospital
6560 Fannin Street, Suite 1100
Houston, TX 77030
University of Texas Houston Medical School
Division of Medical Genetics
Dianna Milewicz, MD, PhD
Houston, TX 77030
Appt. Coordinator: Sandra, office administrator for Dr.Milewicz
University of Washington Medical Center
1959 North East Pacific Street
Seattle, WA 98195
Genetic Counselor: Robin Bennett
From time to time, the NMF also learns that certain institutions have self-designated Marfan Syndrome Clinics or an expressed interest in the syndrome managed through a medical genetics clinic. The definition of a Marfan Syndrome Clinic varies greatly from institution to institution. Anyone contacting these institutions should make personal inquiry as to the nature and scope of services provided, the availability of specialists associated with the various body systems affected by the Marfan Syndrome, the coordination of care across the various departments in which the appropriate specialists may be located, and all related cost and insurance issues.
The self-designated clinics include the following:
Cedars-Sinai Medical Center
Marfan Syndrome Clinic
444 South San Vincente Blvd., #1001
Los Angeles, CA 90048
Clinic Coordinator: Fiona Field
Loma Linda Medical University
Marfan Syndrome Clinic
Dept. of Cardiology
11234 Anderson Street
Loma Linda, CA 92354
(909) 558-4652, X45055 for adult appt.
(909) 558-4200 for pediatric appt.
Coordinator: Shirley Holt
The Children's Hospital (For children. Sees adults in context of affected children.)
Marfan Subspecialty Clinic
1056 East 19th Avenue, B 100
Denver, CO 80218
Medical Director, Anji Yetman, M.D.
University of Colorado Hospital (for adults)
Heart Center, Clinic for Adult Congenital Heart Disease
4200 East Ninth Avenue, B120
Denver, CO 80262
Medical Director, Anji Yetman, M.D.
Marfan Clinic Nurse, Mary
A.I. Dupont Hospital for Children (maximum age 18)
Cardiology Department, Marfan Syndrome Clinic
P.O. Box 269
Wilmington, DE 19899
Genetics Counselor: Linda Nicholson
Children's Memorial Hospital (Pediatrics only)
Division of Genetics MC 59
2300 Children's Plaza
Chicago, IL 60614
Clinic Coordinator: Karen Niedermeyer
Marfan Syndrome Clinic
810 S. Washington Street
Naperville, IL 60566
Clinic Coordinator: Celia Thomas
Loyola University Medical Center
2160 South 1st Avenue
Maywood, IL 60153
Clinic Coordinator: Geri Binion
St. Vincent Hospital
Medical Genetics Department
8402 Harcourt Road, Suite 732
Indianapolis, IN 46260
Clinic Coordinator: Meadow Heiman
Henry Ford Hospitals
Dept. of Clinical & Molecular Genetics
Marfan Syndrome Clinic
2799 W. Grand Boulevard
Detroit, MI 48202
Clinic Coordinator: Peggy Rush
Marfan Syndrome Clinic
200 First Street, SW
Rochester, MN 55905
Clinic Coordinator: Doug Kocer, R.N.
Mt. Sinai School of Medicine
1 Gustav Levy Place
Dept. of Cardiovascular Genetics
New York, NY 10029
North Shore University Hospital
Division of Medical Genetics, Dept. of Pediatrics
300 Community Drive
Manhasset, NY 11030
(516) 365-3996 option #1, ext. 2805
Appointments coordinator, Karen
Schneider Children's Hospital
Marfan Syndrome Clinic
Division of Human Genetics
Room CH 009
New Hyde Park, NY 11040
Clinic Coordinator: Meredith Masiello
Duke University Medical Center
Marfan Syndrome Clinic
Department of Pediatric Genetics (they also evaluate adults)
Durham, NC 27710
Tele (919) 684-3729, Diane Frazier for an appointment
Wake Forest University Baptist Medical Center
Dept. of Pediatrics, Section on Medical Genetics
Ground Floor, Nutrition Center
Medical Center Blvd.
Winston Salem, NC 27157
Tele (336) 713-75782
Clinic Coordinator: Carla Johnson
Cleveland Clinic Foundation
Dept. of Thoracic and Cardiovascular Surgery
Aorta Center and Marfan Syndrome Clinic
F25, 9500 Euclid Avenue
Cleveland, OH 44195
University Hospitals of Cleveland
Marfan Syndrome Clinic, Department of Genetics
11100 Euclid Avenue
Cleveland, OH 44106
Coordinator: Jennifer Bubb, M.S.
Children's Hospital Medical Center of Cincinnati
Marfan Syndrome Clinic
3333 Burnet Ave.
Cincinnati, OH 45229
Leah Hochstetter, M.S. Clinic Coordinator
CDRC Genetics & Birth Defects Clinic
Oregon Health Sciences University
P.O. Box 574
Portland, OR 97207
Clinic located at: 707 S.W. Gaines Road
Clinic Coordinator: Stein Berger
Satellite Clinic in Eugene, tele. (800) 637-0700 ext. 5
If you cannot obtain a consultation at any of the resources listed above, expertise is more likely (but not guaranteed) to be found in the departments of Medical Genetics and Cardiology at major medical centers affiliated with medical schools. Although an echocardiogram, ordered through the medical specialty of Cardiology, is an important component of an evaluation for Marfan syndrome, the medical specialty most frequently positioned to coordinate all the specialties needed for a comprehensive diagnostic evaluation is Medical Genetics. Always inquire about the center's experience with Marfan syndrome.
Thank you so very much. You have been so helpful. We are off to the pediatric cardiologist Thursday. If we do not get an echo I will be getting one somewhere. If something shows up we will go to St. Louis. It's not to far.
I would almost guarantee that he's going to get an echo. The pediatric cardiologists (they either been trained at Children's in St.Louis or in Philly) that I've run into all seem to be well attuned to looking for Marfan's, so I don't think there will be a problem discovering it if it is there. Adult cardiologists can be a different story, but most of the ones that I know are pretty much on the ball too.
I just wanted to say thank you to everyone who took the time to post a response to my forum question. I was disappointed to not get a real opinion from the forum doctor, but you all provided me with lots of very helpful and thoughtful information. Nick, EchoTech and Pbanders, your input was much appreciated. I was able to schedule an appointment for my daughter to get a second opinion about her enlarged aorta. Hopefully, it will put me at ease and shed a little more light on how to proceed from here.
I would take it easy on the forum doc, not that your being mean or anything like that . Pediatric hearts make adult cardiologists cringe and they really don't know how to deal with them. It is hard to explain to the general population, but the easiest way to think of it is in the adult cardiologist's mind, the pediatrics are like another lifeform from another planet. It is that different. I hope this helps to explain the doc's actions or perceived inaction.
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