Marfan's syndrome physical examination

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Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1] ; Assistant Editor-In-Chief: Cassandra Abueg, M.P.H. [2]

Physical Examination

Appearance of the Patient

Many individuals with Marfan Syndrome grow to above average height.

Vital Signs

Within normal limits.

Skin

• Unexplained stretch marks on the skin

Head

• Symptomatic high palates and small jaws.

Eyes

Lens dislocation in Marfan's syndrome, the lens was kidney-shaped and was resting against the ciliary body.

• Marfan syndrome can also seriously affect the eyes and vision. Nearsightedness and astigmatism are common, but farsightedness can also result.

• Subluxation (dislocation) of the crystalline lens in one or both eyes (ectopia lentis) (in 80% of patients) also occurs and may be detected by an ophthalmologist or optometrist using a slit-lamp biomicroscope.

• In Marfan's the dislocation is typically superotemporal whereas in the similar condition homocystinuria, the dislocation is inferonasal.

• Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.
• Early onset glaucoma can be another related problem.

Heart

• Undue fatigue
• Shortness of breath
• Heart palpitations
• Racing heartbeats
• Pain in the left chest, back, shoulder, or arm
• Heart murmur heard on a stethoscope
• An abnormal reading on an electrocardiogram
• Leakage or prolapse of the mitral or aortic valves that control the flow of blood through the heart. (See mitral valve prolapse.)
• Dilated aorta or an aortic aneurysm or even aortic dissection
• There is an increased incidence of dehiscence of prosthetic mitral valve. Care should be taken to attempt repair of damaged heart valves rather than replacement.

Extremities

• Some have long slender limbs with fingers and toes that are also abnormally long and slender (arachnodactyly).
• An individual's arms may be disproportionately long.
• Abnormal joint flexibility
• Flat feet, stooped shoulders

Neurologic

• Some people with Marfans have speech disorders

Other

• Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum.