Station 5 case no 2 : Marfan's syndrome

Scenerio: You are SHO in MAU and you have been asked to see Ms.Nadia ,28 years old female ,with complaint of shortness of breath,she has had multiple admission in past with similar complaints.

take a focus history,do a brief exam and present your findings and discuss with examiner.

:- the moment you enter the room ,you see a patient with unusually long fingers( arachnodactyly) and a tall stature

now within 15 second you have realised that its Marfan's and now you gotta take a focused history:

1.How long you have been having the breathing difficulty?

has it occured before? have you sought any treatment before? ever told that you have Pneumothorax or problems with your heart valves?

if she tells you that she had pneumothorax previously then considering asking the quality of pain,improvement in pain with sitting or worsening with inspiration.

ask her if she was told she had marfan's? if she was diagnosed then when? any family member with similar problems?

A brief review of systems might me good idea here:

ask for any joint pain,hypermobile joints

any eye problems( MYOPIA BEING Most common, ectopia lentis)

any previous problem with breathing( spontaneous pneumothorax) --in this case she has already told you

any cardiac abnormalities( AR)

BACK PAIN(DURAL ECTASIA)

Now proceed to examination--

(Knowing Ghent criteria is good but examiner never bother asking!)

arachnodactyly

arm span > height

ectopia lentis

high arched palate

back pain?? dural ectasia

joint hyper mobility

look for precuts excavatum

collapsing pulse,look for aortic regurgitation,mitral regurgitation and mitral prolapse( due to cystic medial degeneration)

suppose here you heard AR( diastolic murmur in left upper sternal border) and collapsing pulse is evident then most likely pt is suffering SOB cause of Aortic regurgitation,

if this is not the case then you can stick with pneumothorax!

Now comes the Best part:

Examiner : what is your findings and diagnosis

My diagnosis for this lady who came with c/o SOB and n on examination found to have large fingers( arachnodactyly),the arm length span is more than height,the joints are hypermobile,there is upward dislocation of lens bilaterally,there is high arched palalte and on auscultation of precordium there is mid to late diastolic murmur in left upper sternal border, along with collapsing large volume pulse suggestive of Aortic regurgitation.

How would you manage this patient?

i will order a CXR to r/o pneumothorax and see if there is any evidence of cardiomegaly

ecg: see LVH

TTE: to see aortic root size

pharmacologically i would like to put pt on Beta blockers and ARBs to halt the progression of aortic root dilatation,

annual TTE would be a good idea to monitor aortic root,as patient has visual problems i would like him to be seen by ophthalmologist.

i would also ask the patient about her future plans of getting pregnant and if she has any then i would explain her the risk of developing Aortic dissection during pregnancy,and in that circumstances it must include multidisciplinary team consist of obstetrician,cardiologist with expertise in this area.

pt also need to be genetically counselling considering Autosomal dominant nature