Site of Aortic aneurysm in Marfan syndrome (LQ)
|C||Arch of aorta|
Marfan syndrome (Ref. Hari -18th ed., Pg-3212)
Marfan’s syndrome is a genetic disorder of the connective tissue of the body manifested principally by changes in the skeleton, eye and cardiovascular system.
1. Mutation in gene for fibrillin-1 (FBN-1)
2. Loss of fibrillary fibre base for deposition of elastin
Triad: 1. Skeletal changes 2. Ectopialentis 3. Aortic aneurysm
1. Skeletal changes of Marfan’s syndrome
a. Patients are usually tall b. Have long limbs
c. The ratio of upper segment to lower segment is usually 2 SDs below the mean for age, race & sex.
d. Arachnodactyly (fingers are long and slender, spider like in appearance)
e. Pectus Excavatum, Pectus carinatum.
f. Scoliosis, kyphosis
2. Cardiovascular changes.
a. MVP b. Mitral valve progresses to MR c. Aortic aneurysm occurs (mainly at root of aorta) it can leads to AR
3. Ocular changes.
a. Dislocation of the lens (ectopialentis) b. Elongation of globe (Myopia) c. Retinal detachment.
4. Associated changes.
a. Spontaneous pneumothorax b. Inguinal & incisional hernias c. Striae may occur over shoulder & buttocks.