Question about Marfan syndrome - page 2

I am a second year nursing student and currently in my Ped. rotation. I recently watched an educational video on Marfan syndrome. I learned that this disease is a genetic disorder, and if a patient... Read More

  1. by   mitchsmom
    Blondii, I hope things turn out for the best with your son.
    Believe it or not, I know two people with Marfan syndrome. One thing I would just comment on is that all people with this disorder don't have an appearance like the "worst case scenario" pictures that are in many medical books. As with many disorders, there is a continuum of degree of severity. The one guy I know is tall and lanky but not at all like pictures I've seen in books. The other person I know is an attractive 7 year old girl who was diagnosed fairly recently (the clue was the shape of her chest). Her mom carries the gene and has a milder version yet (she is double jointed, etc. but no serious symptoms and no tall, lanky appearance - the only way she knew is because she was tested along with her daughter when she was diagnosed). Both the man and the little girl are living relatively normal, productive lives and seem to be doing well.
    Last edit by mitchsmom on Jun 25, '04
  2. by   ark-two
    I've actually taken care of a father and son with Marfan's. The man' children also had Marfan's. They were all long boned and with extensive cardiac complications. They have had valve replacements and aortic replacements. The son had a stroke from untherapeutic coumadin levels. It seems that their hearts, eyes, and bones are elongated. The father and son both had aortic disections and emergency surgery. Both also had St jude valves. St Jude may have a lot of info on Marfan's. It is genetic and needs to be watched by a cardiologist.