SYNDROME MARFAN

Syndrome marfan is disease at connective tissue causing abnormality at vein and heart, bodyframework, eye, nerve system, skin, and lung.

At syndrome marfan, connective tissue that functioning toarrest weight of body together and provide instruction to body growthexperiencing of damage and do not act properly. Syndrome marfan be caused ofdamage ( mutation ) at gene that determining structure of fibrillin, protein asa part of connective tissue that important. Syndrome marfan be degraded throughchain dominant autosom.

The symptom of syndrome marfan :

a. Abnormality at vein and heart include :

• Weakness of wall aorta can cause enlargement so that formedaneurismal.
• Blood can infiltrate among venous wall coat ( dissectionaorta ) or happened rupture at aneurisma.
• If occur enlargement aorta so that spillway of aorta willexperience regurgitation.
• Prolaps at spillway mitral.

b. Abnormality of body framework include :

• Patient have body that thin and high.
• Arachnodactili ( arm and radius that length with fingerlooking like spider ).
• If both arm flung out aside, hence distance between bothhand fingertip bigger than high of body.
• Abnormality of chest ( pectus excavatum / concave chest orpectus carinatum / uppermost of chest ).
• Cyphoscoliosis.
• High palate.
• Foot level off
• Tooth crumple.

c. Abnormality of eye include :

• Myopic.
• Dislocation ( abnormality of situation ) eyepiece.
• Ablation of retina ( retina escape ).

Main treatment at case of syndrome marfan is to preventabnormality at eye and vein. Reserpin or propanolol can be used to preventenlargement and dissection of aorta. If occur enlargement aorta, can be donesurgery to repair and or changing it. At daughter entering age 10 year thatvery high may be suggested to experience hormone therapy ( progesterone andestrogen) to stimulate puberty early so that can inhibit of growth.

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