oh marfan syndrome~

menariknya di hospital beberapa minggu lepas... met this patient with marfan syndrome! it's relatively a very rare disease to be found..even my doctor told me that that was his 2nd time met such patient in his medical career up to now..

marfan syndrome is a genetic disorder of connective tissue... i dont want to explain everything in detail related to the pathogenesis of the disease..and to make it simple it's a autosomal dominant disease, but dont worry u'll be at risk only if either ur father or mother has this disease, if not u're in the safe zone then :)

what make this disease interesting in my point of view as medical student is the complications and all the clinical manisfestations that can be observe from the patient.. still can remember someone told me -the severe & complicated the disease, the interesting it wud be for doc & medical student :P *especially in term of learning purposes & experiences..

ok back to the patient, from the start when u approach this marfan patient u can easily identify the typical tall with long limb, and the thin and slim fingers.. i'll provide here later some picture to help your imagination :P hehehe...

since this disease is a disorder of connective tissue thus the manisfestion will be so general involving many organs such as eyes, heart etc etc.. but i'll only write here the most common one..

1. Patient has problem with vision/eyes because of ectopic lentis or subluxation/dislocation of the lens..pt usually experiences astigmatism or near-sightedness..but can also hv far-sightedness.. sometime pt also have glaucoma, retina probs etc2...

2. gothic palate, pectus excavatum!

3. his heart is the main reason why he's being admitted in the hospital..he has insufficiency in all 4 valves [the most severe aortic n mitral valve] and already had transplantation of aortic valve and had also ascending aorta replacement due to aortic aneurysm..

*his ascending aorta aneurysm/dilation of ascending aorta leads to dilation also of the heart at the area of the aortic valve, thus leading to severe insufficiency of the aortic valve... but all these complication already being 'repaired' few years ago...

from history taking, his mother died due to rupture of disecting aorta.. marfan snyndrome is one of the etiology of disecting aorta aneurysm beside hypertension, syphilis etcetc... due to weakening of the CT, the intima of the aorta can be easily teared and a false channel can be found under the intima...[picca below~]

pt with disecting aortic aneurysm is at high risk of aortic rupture - externally to pericardium and can lead to sudden death due to cardiac tamponade...

it also can cause sternose@block of the aorta itself & also the main branches of aorta ; carotid artery, subclavian artery etc...leading to stokes & death because of the impairment of the blood supply...

the current problems of the patient is the mitral valve insufficiency, he's about to have mitral valve transplantation on the next day...so we sent him for regular procedure before cardiosurgery : coronary angiography to see does he has any prob with the blood supply of the heart..etc etc...

*ascultation, he has a very loud murmur all over her chest..due to the insufficiency of the heart valves but the maximum point is at the axilla area and mitral region..

ok enough with heart..

4. others :

lungs- spontaneous pneumothorax is pretty common in marfan syndrome..

CNS disturbances -dural ectasia, spine problems etc...

so i guess that's all guys...all this info is not complete, just sharing what i remember and some facts i found from google-ing etc...

so thanks for reading :P hehehe~

extra info about marfan sy visit here The National Marfan Foundation: clickhere!

and credit to joe smart for sharing this real story about his niece with marfan... to read: click here!