Discussions By Condition: Congenital conditions

Marfan: Symptoms of Pneumothorax?

Posted In: Congenital conditions 6 Replies
  • Posted By: leeirons
  • November 30, 2006
  • 06:46 PM

First the question, and then some background. Is it possible to be walking around with an intermittent, non-tension pneumothorax (for a year-and-a-half), without it showing up on an x-ray?

I am in the process of being diagnosed with Marfan syndrome. My geneticist is pretty sure that I have it (we've already found the dilated aortic root and I have some of the Marfan phenotype signs), but we are still working on testing me to see if all of my symptoms are being caused by connective tissue conditions related to Marfan syndrome.

For the last year-and-a-half, I have been having this tightening/shifting sensation in my throat. Looking at myself in the mirror, I can on occasion see that my "Adam's apple" has shifted slightly to the left of the centerline of my neck, and I can feel the "pulling" sensation (a tracheal shift?). Along with this, I have left chest pain, left shoulder pain, and left back pain that comes and goes. I have occasionally felt as if I was having a difficult time breathing, though I felt I was getting enough oxygen. I also occasionlly get a rasping sensation in my left chest when breathing while lying down. I also frequently get a dry cough.

My throat has been scoped by an ENT and my neck has been CT-scanned, with no signs of what is causing this. I have not had an angiogram, but I have had an echocardiogram and a thoracic MRI. My cardiologist is pretty sure it is not angina. My shoulder, C-spine, and chest have been x-rayed with no signs of arthritis. An MRI of my neck shows no nerve problems. Doing some research today, I found that these could be indications of a pneumothorax.

I know that pneumothorax can occur in people with Marfan syndrome. However, I have had chest x-rays with apparently no signs of pneumothorax. The only thing notable was very slight localized fibrosis scarring in my lower right lung that the doctors say probably occured during some illness when I was young.

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6 Replies:

  • Sorry, I have no information to help you, but can you tell me the steps you went through to get a diagnosis for Marfan's? I may want to start the process since I have a young child and I want to make sure we get proper annual preventative care is we do have this condition. I don't fit every physical phenotype, but I do have a lot of markers and have family on both sides that have the outward appearance and related medical problems, but not a diagnosis. I appreciate any advice. Just for your info, I have added some of my charachterisics- i know you can't diagnose, but maybe you have picked up some more knowledge: I am 33 yr old female, 5"7". long legs/arms/neck/wingspan is same as height- not excessively thin but 126 lbs, a little on thin sideextremely long, spidery fingers that bend back (neat party tricks)long, "french-fry" toestiny wrists- pinky overlaps thumb when I circle the wristFlexibility- can bend over touch floor with palms/ legs straightpainless spontaneous joint popping all over when walkingnear sighted and astigmatismReynauds (problem with cold)problems with vericose veins and broken capilaries since childhoodeasily bruise but not anemicno abnormal blood tests for rheumatoid arthritis or lupus or anything elseI have not other health condiitons right nowI do get intermitant low back pain, and my lumbar spine all stick out- looks abnormal to meI will be having heart tests just because of family history of MVP, but I dont have any history myself Anyway, sorry to barge in on your thread, but if you have any info, I would appreciate your feedbackP
    pumibel 42 Replies
    • February 25, 2007
    • 02:49 AM
    • 0
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  • pumibel, You need to subscribe to the Marfan-Life email list. There, you can ask all the questions you have and get answers from my people with many experiences. TO SUBSCRIBE: Send an email (can be blank — no human reads it, just the computer — to marfan-list-subscribe@marfan-list.org. Make sure you include the hyphens. Lee
    leeirons 13 Replies
    • February 25, 2007
    • 03:49 AM
    • 0
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  • pumibel, You need to subscribe to the Marfan-Life email list. There, you can ask all the questions you have and get answers from my people with many experiences. TO SUBSCRIBE: Send an email (can be blank — no human reads it, just the computer — to marfan-list-subscribe@marfan-list.org. Make sure you include the hyphens. LeeThanks I subscribed.Also, I looked up the definition of pneumothorax-I know someone who had a sudden lung colapse, and some one who had one over a few days. Both were in serious pain and had to go to the emergency room. I looked at a website, too : http://www.lakeside.ca/Patient_Info/pneumothorax.htmLooks like it maybe possible for you to be walking around with it, but I wouldn't know for how long by reading this.
    pumibel 42 Replies
    • February 25, 2007
    • 04:25 AM
    • 0
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  • Hi, could be Costochondritis it is very common in people with Marfans syndromeDue to the laxity of the connective tissue things like your ribs can move around more than the average persons and this can cause untold pain. I have had more than one rib sublux (Partial dislocation) it is a pain like no other. Thankfully I haven't had this torture yet. :eek:
    Anonymous 42,789 Replies
    • February 26, 2007
    • 06:52 PM
    • 0
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  • My doctor checked me for Costochondritis (my applying heavy pressure with her hands to my chest and back and vrious locations), and said I do not have it.
    leeirons 13 Replies Flag this Response
  • Since my link was left out when I posted last time :rolleyes: I'l copy what was on the pageCostochondritis does not lend itself to tests. Personal history and physical exam are the mainstays of diagnosis. Tests however are sometimes used to rule out other conditions that can have similar symptoms but are more dangerous, such as heart disease.The doctor will seek to reproduce tenderness over the affected rib joints, usually over the fourth to sixth ribs in costochondritis, and over the second to third ribs in Tietze syndrome. In costochondritis with unknown causes, there is no significant swelling of costochondral joints.# There is swelling as well as tenderness of the rib-cartilage junctions in Tietze syndrome. Although some doctors use the terms costochondritis and Tietze syndrome interchangeably, Tietze syndrome has a sudden onset without any preceding respiratory illness or any history of minor trauma. In Tietze syndrome there is frequently radiation of pain to arms and shoulders as well as pain and tenderness associated with swelling at the spot that hurts.# Blood work and a chest x-ray are usually not helpful in diagnosing costochondritis. However, after sternum surgery, or for people at risk for heart disease, doctors will be more likely to do tests if you have chest pain and possible costochondritis to be certain you do not have any infection or other serious medical problems. * They will look for signs of infection such as erythema, swelling, pus, and drainage at the site of surgery. * A more sophisticated imaging study of the chest, a gallium scan, is used to check for infection. It will show increased uptake of the radioactive material gallium in an area of infection. * In cases of possible infection, the white blood cell count may be elevated. * Chest x-ray should be obtained if pneumonia is a suspected cause of chest pain. * ECG and other tests will be done if a heart problem is being considered.Costochondritis is a less common cause of chest pain in adults but one that occurs fairly frequently in people who have had cardiac surgery. The diagnosis can only be reached after excluding more serious causes of chest pain that are related to the heart and lungs. The appropriate studies, such as ECG, chest x-rays, blood test for heart damage (cardiac enzymes and troponin levels), and other studies will be done, as indicated. Any chest pain in adults is taken seriously and not ignored. If you are concerned, consult with your doctor.A bit more than trying to force her hands through your chest cavity :eek:
    Anonymous 42,789 Replies Flag this Response
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