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

• 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 ComplicationsSkeletal:• Scoliosis, flat feetEyes:• Retinal detachment, glaucoma, cataractsCardiovascular:• Aortic dissection/ rupture• Aortic or mitral valve insuffiency• Dilated cardiomyopathy• Bacterial endocarditis Nervous System:• Dural ectasiaRespiratory:• Sleep apnea