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.
• Undue fatigue

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

• 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.

Lungs

• Spontaneous pneumothorax
• Shortness of breath
• Cyanosis
• Marfan syndrome has also been associated with sleep apnea and idiopathic obstructive lung disease.

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.
• [Dural ectasia]], the weakening of the connective tissue of the dural sac, the membrane that encases the spinal cord.
  • Dural ectasia can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are lower back pain, leg pain, abdominal pain, other neurological symptoms in the lower extremities, or headaches. Such symptoms usually diminish when the individual lies flat on his or her back.

Other

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