Case Presentation- Marfan
Syndrome
Agatha Stanek
Case presentation
• 13 year old female patient presents to clinic for
routine check-up.
• Patient has myopia but has appropriate
prescription
• Noticeable thin and lean build of patient with
arachnodactyly
• Pes planus
• Headaches, weakness and occasional pain in the
genital area that is relieved in the supine position
Patient hx
Medical hx:
• Broken arm at age 7.
• All immunizations are current
Family hx:
• Father died of an early heart-related death
(26)
• Aunt has Type 2 Diabetes
Social hx
• Oldest of 2 children.
• Patient lives with grandparents, mother and
sibling in downtown area close to their high
school
• Mother is a full time teacher at a nearby
university.
Occupational hx:
• Patient attending high school; grade 8.
Physical Exam
• Afebrile
• Reduced upper-to-lower body segment ratio (0.85 vs 0.93
• Positive wrist (Walker) and thumb (Steinberg) signs...
HEENT:
• Notice high arched palate and dental crowding
• Narrow face observed
• Patient alert
CARDIOVASCULAR:
• Dysrhythmia- decrescendo diastolic murmur from aortic
regurgitation
RESPIRATORY:
Clear
Physical Exam continued
SKIN:
• Noticeable stretch marks near patient’s lower
back area
Abd:
Clear
Nervous system:
• Pain in lower spinal region
Differential Diagnosis
•
•
•
•
•
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Gigantism and acromegaly
Hyperpituitarism
Hyperthyroidism
Fragile X syndrome
Homocystinuria
Loeys-Dietz syndrome
Additional tests
Imaging:
• X-rays of spine detects scoliosis
• Echocardiogram: presymptomatic aortic root
dilation
MRI shows: Sagittal width of the dural sac at S1 or
below that is greater than the sagittal width of
the dural sac above L4
Diagnosis
• Marfan’s Syndrome- run test to assess genetic
cause
• How many body systems must be affected in a
patient with this diagnosis if it does not run in
one’s family?  3
• Ghent criteria
• Dural ectasia explains some of her symptoms...
Treatment
There is no known cure.
General measures: multi-discpilinary approach to include
cardiologist, opthamologist, orthopedic surgeon if
necessary
Fully activity as tolerated. No specific diet
Drugs of choice:
• Propranolol to decrease force of cardiac contraction and
dely aortic root dilatation
• Calcium channel blockers to retard further aortic growth
Prognosis/ Follow-up
• Frequent examinations including
echocardiograms at least twice a year until
age 18.
• Eye examinations
If patient becomes pregnant, she must
immediately contact physician
Possible Complications
Skeletal:
• Scoliosis, flat feet
Eyes:
• Retinal detachment, glaucoma, cataracts
Cardiovascular:
• Aortic dissection/ rupture
• Aortic or mitral valve insuffiency
• Dilated cardiomyopathy
• Bacterial endocarditis
Nervous System:
• Dural ectasia
Respiratory:
• Sleep apnea