Certain findings may help identify a person who should be screened for Marfan syndrome.
When to evaluate a patient for Marfan syndrome - both of the following:
(1) relatively tall
(1a) adult female: > 5 feet 10 inches
(1b) adult male: > 6 feet
(2) one of the following:
(2a) family history of Marfan's syndrome
(2b) two or more clinical features (see below)
Clinical features (2 or more of the following):
(1) cardiac murmur or midsystolic click
(2) kyphoscoliosis
(3) deformity of the anterior thorax (pectus excavatum)
(4) arm span greater than height
(5) upper to lower body ratio more than 1 SD below the mean
(6) myopia
(7) ectopic lens
where:
• I have been unable to find a table giving the distribution for upper to lower body ratio. The statement indicates that the legs are proportionately long. For the normal older adolescent and adult, the upper and lower segments are about equal.
The workup should include:
(1) echocardiogram
(2) slit lamp examination of the eyes
