Station 5 Case 09

Station 5 Case 09:

Follow Up Questions/Answers

Could you determine if this patient has Marfanoid habitus or Marfans

syndrome?

o This patient mentioned she was under the Cardiology team

surveillance for Aortic route dilation.
o She also mentioned she was under the care of ophthalmologists in
the past but has been discharged.
o Marfans syndrome is skeletal abnormalities with eye and cardiac
involvement.
o I this indicates she has Marfans syndrome.
o In Marfanoid habitus she would just have skeletal abnormalities.

This lady was on Beta blockers, why is that?

o She has Aortic route dilation

o Meticulous blood pressure management is of the highest
importance.
o Beta blockers have been shown and proven to slow down aortic
route dilation.

This lady is under a cardiologist and was under an ophthalmologist, are

there any other teams or specialties that need to get involved?

o The multidisciplinary team here is very important.

o She suffers from a lot of pain Physiotherapy could help here to ensure her
joints are supported and she has good muscle strength.
o Rheumatology could be helpful.
o The pain team could provide some input.
o Due to mobility issues, housing and not being able to work, maybe getting
a blue badge in place. Helping to make sure these things are in place.
Station 5 Case 09

Station 5 Case 09:

Key Words and Phrases

The presenting features from the instructions are joint pain which has a
wide differential diagnosis in Station 5 with arthritis obviously being the
most common. However from appearance and family history this should
take you to consider a diagnosis of Marfans habitus or Marfans syndrome

The focused history has to encompass the extent and character of the
joint pain and hopefully joint hypermobility and must clearly include the
cardiovascular and ocular systems. Any interventions and treatment so
far including any pneumothoraces, cardiac or ophthalmic treatment
should be enquired. Family history is extremely important with the
condition being Autosomal dominant condition resulting in a defect in
the fibrillin gene on chromosome 15. Approximately 25% however occur
as a new mutation. Any family history of sudden death should be
ascertained as clearly there is a risk of aortic rupture from aortic
dilatation.

A drug history specifically of any Beta blocker use should be sort out as
these have proven to slow aortic root dilatation.

The history of how the condition has impacted on the patient should be
sort. Their job and activity level should be asked as strenuous levels of
activity are actually discouraged.

The focused examination should obviously include the joints and

specifically hypermobility and arachnodactyly. The thumb may touch the
forearm on wrist flexion. Walkers sign is overlap of the thumb and little
finger when clasped around the opposite wrist and Steinbergs sign is
when the distal phalanx of the thumb is visible when the palm is closed –
these signs are related to the combination of arachnodactyly and joint
hypermobility.

The cardiovascular system should be examined specifically for mitral and

aortic regurgitation. The chest should be inspected for any signs of chest
drain or VATS scars indicating previous pneumothoraces. The palate
should be inspected. The upward dislocation of the lens is usually only
seen on slit lamp inspection but should be looked for, but evidence of
blue sclera can be seen in some patients.

Differential diagnosis of hypermobile joints syndrome would include

Ehlers Danlos syndrome and psudoxanthoma elastisicum.
Station 5 Case 09

Management may include cardiac screening for the aortic root and
possible beta blocker treatment. Opthalmology review would be needed.
Involvement of geneticists and family screening is important. Podiatrists
for flat feet may be needed.