Marfan syndrome
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Is Marfan Syndrome a serious sickness? How many types of Marfan Syndrome are there?
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Tall, thin, young individuals, with longer upper limb length and width is the primary identification, with highly placed and an arched palate...
This disease is inherited and is the most common hereditary connective tissue disorder (1 in every 10000 individual) and is basically due to a defect in the production of certain extracellular matrix glycoprotein (refer to a molecular biologist for more information, clinically insignificant)...
With this condition, there is lack of support (the normal matrix supports the cells in the network and holds them in position), and this leads to a great elasticity of the skin, ligaments, tendons and blood vessels or even the muscles in the eye itself.
This is autosomal dominant, basically meaning that your future children will be affected no matter what are the circumstances if you are affected.
Severity of the types, that I am not very sure of, you may want to ask an orthopedist or a rheumatologist, but for medical risk factors, there happened to be a raised risk of heart valve problems, aortic dissection (where the aorta literally dissects open due to lack of stability and hence are torn easily)...
As it also involves the eye, you would also experience some blurred vision (shortsightedness usually) and eye lens protrusion or dislocation because of the weak muscles that holds it in place (ciliary muslces) under this condition.
There are hardly any treatment available, and death results usually from the aortic dissection and hence frequent follow up is done to ensure that the patient is alright. Modes of reducing this chances is by giving something to the patient that would reduce the heart rate and hence reducing the blood flow rate and pressure so that it would not induce such a high jet like pressure to tear the blood vessel. Such a medication is called the beta blockers (metoprolol, atenolol or the trade name - Betaloc).
If detected that the aorta is going into failure (by measuring its diameter), a surgical approach can be done to repair it. Antibiotics should be given every time the patient is subjected to any invasive procedures such as dental surgery, catheterization or blood taking procedures for fear of bacterial infection of the already weakened and traumatized heart valves. This is called bacterial endocarditis.
Best is to prevent through genetic counselling... -
You have mentioned several conditions to qualify for having Marfan Syndrome. If one posses not all but just a few, does it qualify to be having Marfan Syndrome?Originally posted by renorenal:Tall, thin, young individuals, with longer upper limb length and width is the primary identification, with highly placed and an arched palate...
This disease is inherited and is the most common hereditary connective tissue disorder (1 in every 10000 individual) and is basically due to a defect in the production of certain extracellular matrix glycoprotein (refer to a molecular biologist for more information, clinically insignificant)...
With this condition, there is lack of support (the normal matrix supports the cells in the network and holds them in position), and this leads to a great elasticity of the skin, ligaments, tendons and blood vessels or even the muscles in the eye itself.
This is autosomal dominant, basically meaning that your future children will be affected no matter what are the circumstances if you are affected.
Severity of the types, that I am not very sure of, you may want to ask an orthopedist or a rheumatologist, but for medical risk factors, there happened to be a raised risk of heart valve problems, aortic dissection (where the aorta literally dissects open due to lack of stability and hence are torn easily)...
As it also involves the eye, you would also experience some blurred vision (shortsightedness usually) and eye lens protrusion or dislocation because of the weak muscles that holds it in place (ciliary muslces) under this condition.
There are hardly any treatment available, and death results usually from the aortic dissection and hence frequent follow up is done to ensure that the patient is alright. Modes of reducing this chances is by giving something to the patient that would reduce the heart rate and hence reducing the blood flow rate and pressure so that it would not induce such a high jet like pressure to tear the blood vessel. Such a medication is called the beta blockers (metoprolol, atenolol or the trade name - Betaloc).
If detected that the aorta is going into failure (by measuring its diameter), a surgical approach can be done to repair it. Antibiotics should be given every time the patient is subjected to any invasive procedures such as dental surgery, catheterization or blood taking procedures for fear of bacterial infection of the already weakened and traumatized heart valves. This is called bacterial endocarditis.
Best is to prevent through genetic counselling...
Also what does arched palate mean? -
The normal palate is not arched, like the architecture of certain buildings you see... arch to be imprecise meaning that it looks like a semicircle... or a hemicircle, whichever way you want to see it...Originally posted by whereismyrib:You have mentioned several conditions to qualify for having Marfan Syndrome. If one posses not all but just a few, does it qualify to be having Marfan Syndrome?
Also what does arched palate mean?
Well, a firm diagnosis is made if there are features in three different body systems altogether OR a postive family history and features from two systems...
Meaning if you have EYE symptoms (1), Heart symptoms (2) or Skeletal symptoms (3) - coz MS only affects these three symptoms most commonly
If you have a POSITIVE family history, meaning someone in your family has this problem, then only 2 of the 3 systems need be involved to make a diagnosis
Here's a full list
Heart Symptoms
-mitral valve prolapse
-aortic dissection
-aortic regurgitation
Eye Symptoms
-subluxation of the lens
-short sightedness
Skeletal Symptoms
-tall stature
-scoliosis
-long arms
-arachnodactyly (long fingers and toes)
-chest wall deformity (any depression or protrusion of chest wall)
-joint laxity (especially the knees)
-high arched palate -
If you have anymore question related to Marfan's Syndrome, please feel free to post here lar ya... I won't be able to answer you that soon after this, busy tomorrow liau... so just leave your question here...
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Reno explained already....the most serious complication may well be aortic dissection, which can be fatal. In this condition, blood enters through a small tear in the inner lining of the aorta, then track through the aortic wall and exit by rupturing through into the pericardial space. The buildup of blood in the pericardium causes cardiac tamponade and death.Originally posted by whereismyrib:Is Marfan Syndrome a serious sickness? How many types of Marfan Syndrome are there?
Thankfully that is rare but it is difficult to diagnose and almost impossible to prevent. Patient with Marfan's soon keep their blood pressure normal as a way to reduce the risk of this complication. -
No offence to the mods here, but i'm afraid the info above is too laden with medical jargon such that only medically-trained personnel are able to understand.
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the patient in question is free to query on any doubts...Originally posted by cornyfish2000:No offence to the mods here, but i'm afraid the info above is too laden with medical jargon such that only medically-trained personnel are able to understand. -
Oh ya, people who got Marfan Syndrome will have high or low blood pressure?Originally posted by oxford mushroom:Reno explained already....the most serious complication may well be aortic dissection, which can be fatal. In this condition, blood enters through a small tear in the inner lining of the aorta, then track through the aortic wall and exit by rupturing through into the pericardial space. The buildup of blood in the pericardium causes cardiac tamponade and death.
Thankfully that is rare but it is difficult to diagnose and almost impossible to prevent. Patient with Marfan's soon keep their blood pressure normal as a way to reduce the risk of this complication. -
What does MS mean?Originally posted by renorenal:The normal palate is not arched, like the architecture of certain buildings you see... arch to be imprecise meaning that it looks like a semicircle... or a hemicircle, whichever way you want to see it...
Well, a firm diagnosis is made if there are features in three different body systems altogether OR a postive family history and features from two systems...
Meaning if you have EYE symptoms (1), Heart symptoms (2) or Skeletal symptoms (3) - coz MS only affects these three symptoms most commonly
If you have a POSITIVE family history, meaning someone in your family has this problem, then only 2 of the 3 systems need be involved to make a diagnosis
Here's a full list
Heart Symptoms
-mitral valve prolapse
-aortic dissection
-aortic regurgitation
Eye Symptoms
-subluxation of the lens
-short sightedness
Skeletal Symptoms
-tall stature
-scoliosis
-long arms
-arachnodactyly (long fingers and toes)
-chest wall deformity (any depression or protrusion of chest wall)
-joint laxity (especially the knees)
-high arched palate -
Yup, quite a lot of term I don't understand.Originally posted by cornyfish2000:No offence to the mods here, but i'm afraid the info above is too laden with medical jargon such that only medically-trained personnel are able to understand. -
Yup, will ask if I have further doubts.Originally posted by renorenal:the patient in question is free to query on any doubts...
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Check this up:Originally posted by whereismyrib:Yup, will ask if I have further doubts.
http://www.emedicine.com/ped/topic1372.htm
If terminology is a problem, you can clarify this with physicians on this forum, especially those who take the effort to write while cutting up their patients
.
BTW, are Renorenal and Oxford Mushroom physicians with some time to waste on forums like this? -
It's a challenge. The moderators here did a good job.Originally posted by mentallyimpaired:Check this up:
http://www.emedicine.com/ped/topic1372.htm
If terminology is a problem, you can clarify this with physicians on this forum, especially those who take the effort to write while cutting up their patients .
BTW, are Renorenal and Oxford Mushroom physicians with some time to waste on forums like this?
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They are not always here lah. Will usually see them after midnight, sometimes earlier.Originally posted by mentallyimpaired:Check this up:
http://www.emedicine.com/ped/topic1372.htm
If terminology is a problem, you can clarify this with physicians on this forum, especially those who take the effort to write while cutting up their patients .
BTW, are Renorenal and Oxford Mushroom physicians with some time to waste on forums like this? -
At 23 y.o. (DOB 1982), and without NS liabilities (presumably M'sian from his bio), Renorenal should be a medical officer, or a medical student, who is indeed very enthusiastic about his new found textual knowledge.Originally posted by ndmmxiaomayi:They are not always here lah. Will usually see them after midnight, sometimes earlier.
Just being Kay-poh: Are you doing some part 1 exams, or are you in your pre-clinical years? No medical student can remember that much anatomy or physiology by the time he does his Final MBBS. Ask your consultants about Marfan syndrome, Shprintzen-Goldberg syndrome or Stickler syndrome, specifically pathophysiology. With the exception of Medical Pathologists or Medical Geneticists, most would give you a blank stare and a tight slap on your butts (with compliments, of course).
Nevertheless, I applaud your obsession with medical jargon. Study hard! Cheers. -
i hope they are true and certified physicians thats all.
And they really have lots of time to waste man
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You remind me of my questions that I want to ask, but always forget. He is very knowledgable, at least in this field.Originally posted by mentallyimpaired:At 23 y.o. (DOB 1982), and without NS liabilities (presumably M'sian from his bio), Renorenal should be a medical officer, or a medical student, who is indeed very enthusiastic about his new found textual knowledge.
Just being Kay-poh: Are you doing some part 1 exams, or are you in your pre-clinical years? No medical student can remember that much anatomy or physiology by the time he does his Final MBBS. Ask your consultants about Marfan syndrome, Shprintzen-Goldberg syndrome or Stickler syndrome, specifically pathophysiology. With the exception of Medical Pathologists or Medical Geneticists, most would give you a blank stare and a tight slap on your butts (with compliments, of course).
Nevertheless, I applaud your obsession with medical jargon. Study hard! Cheers.
And I guess you are another doctor or medical student. Never hear all these words before (Shprintzen-Goldberg Syndrome, Stickler Syndrome). Any persons out there don't know this. -
Wow... I can't believe volunteering an offer would yield so much suspicious... i mean u do have your rights to be suspicious... but up to the point of near-criticizing... I'm just dumbfounded...
If the mentallyimpaired chap feels capable of questioning my competency, then I do believe that you probably are one without any to begin with... -
Marfan Syndrome...Originally posted by whereismyrib:What does MS mean? -
Originally posted by mentallyimpaired:
U sign up just to say this?
At 23 y.o. (DOB 1982), and without NS liabilities (presumably M'sian from his bio), Renorenal should be a medical officer, or a medical student, who is indeed very enthusiastic about his new found textual knowledge.
Just being Kay-poh: Are you doing some part 1 exams, or are you in your pre-clinical years? No medical student can remember that much anatomy or physiology by the time he does his Final MBBS. Ask your consultants about Marfan syndrome, Shprintzen-Goldberg syndrome or Stickler syndrome, specifically pathophysiology. With the exception of Medical Pathologists or Medical Geneticists, most would give you a blank stare and a tight slap on your butts (with compliments, of course).
Nevertheless, I applaud your obsession with medical jargon. Study hard! Cheers.
And how sure are you by saying NO medical students? If you were to go through the five years of medical course, you would know what the bell curve in performance is like. Not that I want to boast or whatsoever, but my interest in medical knowledge is what I like to dwell in. Now, I hope you don't have a problem with that. -
Originally posted by mentallyimpaired:
Oh my, are you the director of health?
Check this up:
http://www.emedicine.com/ped/topic1372.htm
If terminology is a problem, you can clarify this with physicians on this forum, especially those who take the effort to write while cutting up their patients .
BTW, are Renorenal and Oxford Mushroom physicians with some time to waste on forums like this?
Even doctors need time to rest... and I don't waste time on forums during my working hours... I only do so during my break... so don't be foolish... -
Heart SymptomsOriginally posted by whereismyrib:What does MS mean?
-mitral valve prolapse
-aortic dissection
-aortic regurgitation
I will try my very best to explain to you in brief what these things are... of course, I only have an hour to spare (my lunch time), otherwise some supposedly 'medical personnel' would start saying I have too much time to waste... oh well..
The heart has 4 valves, and under normal condition, they open and close tightly to allow blood to flow in and out. These valves are named mitral, aortic, tricuspid and the pulmonic valves. Under Marfan's, the valves which are made up of muscular and elastic tissue fails to get support (refer the first post of my reply to your question) and when they don't get enough support, they will tend to be lax and fail to shut as tight as they normally would, hence allowing blood to flow in the wrong direction when the heart is being pumped strongly. This will lead to symptoms of shortness of breath, chest pain and may also present with blackouts as there are less blood being channeled to the brain. These lax valves are called regurgitation or prolapses.
For this picture, look at the arrows, these shows the blood flow across the 4 main heart valves... -
Eye SymptomsOriginally posted by whereismyrib:What does MS mean?
-subluxation of the lens
-short sightedness
As for the eye, the normal anatomy shows that the lens is held by small bodied muscles called ciliary muscles and the iris surrounds it and control the widening or contraction of the pupils. These tissues contain, yet again, muscles and elastic bodies to allow such properties to occur. Marfan's which is a connective tissue disease (connective tissue as its name implies means a certain substance that connects the tissues together) causes laxity of the matrix of the connective tissues (glycoproteins) are not properly arranged and hence they are not as strong as the normal muscles.
The muscles hold the lens in position and keep it in check, but under such weak conditions, the lens will tend to protrude out or off its normal position hence causing complication such as that above - subluxation of the lens, and also short sightedness (the reasons are the same)...
In this picture, concentrate on the lens, the oval rounded shaped structure (it is labelled) and look at it's attachment to the iris and ciliary body (muscle)... if the muscles were weak, the lens would not be held in check and would loosen out... -
Skeletal SymptomsOriginally posted by whereismyrib:What does MS mean?
-tall stature
-scoliosis
-long arms
-arachnodactyly (long fingers and toes)
-chest wall deformity (any depression or protrusion of chest wall)
-joint laxity (especially the knees)
-high arched palate
Some of these are features characteristics of MS itself, though most of the explanation could not be related to the cause of how it happens, but it just does... basically the connective tissue isn't that strong, and normally which it is hard and firm (the tissues), it becomes soft and overly flexible to allow stretching without any pain. During the embryonic period, when the baby grows in the tummy and develop, problems arise as such and gives rise to the above condition (imagine pieces of corn placed on a soup and compare it with the pieces of corn placed on an ice cream, the more stable one would be the ice cream, as it holds the structures of cells and tissues in check and allow them to carry out their activities without much troublesome).
Basically, the disease has only one problem (lack of support in the connective tissue disease), and as I have put it in that way above and several posts before this, I hope that you have a rather good idea of why these problems can happen, especially the trend...
All of the above disorders listed, if noted carefully includes the bony tissues, the joints and the cartilage which requires a huge amount of steady matrix to support the functional units of that organ respectively.
In this picture, concentrate on the chest wall deformity, you can see an excavation in the middle and the long fingers (arachnodactyly) and of course the heart problem, the great vessel that comes out from the left side of the heart (the aorta) is dilated because it appears weaker than normal...