☛ 1896-Autine Marfan
☛ 65-70%genetic transmission-mutation of FBN1 gene on chromosome 15
Criterias
☛ Main systems get affected
☛ Skeletal,CVS, occular, skin,pulmonary
Ghent diagnostic criteria
For skeletal system
| MAJOR | MINOR |
| Pectus excavatum/carinatum | Mild pectus excavatum |
| Upper segment/lower segment <0.8 | High arched palate |
| Arm span/height >1.05 | Oblong head |
| Walker murdoch sign-(wrist sign)-little | Endophthalmos |
| Finger touch to thumb | Down sloping eyes |
| Steinberg sign-thumb flexed & if it Protrudes out of the medial aspect of hand sign is positive | Joint hypermobility |
☛ metacarpel index > 8.4
☛ scoliosis
☛ angle of elbow>160*
☛ flat foot
☛ protruding acetabulum
☛ 2 major+2 minor+1 major→ + system affected
OCCULAR
☛ Major-sublaxation of lens
☛ Minor-flat cornea,axial length of globe > 23.5
☛ Hypoplastic iris/ciliary muscle
☛ 1 major 2 minor +ve
CVS
MAJOR
☛ Dilatation of aorta>40 cm with or without AR with dilated sinuses of vulsalva
☛ Dissection of any position of aorta.
MINOR
☛ MVP/with or without MR
☛ dilatation of MPA>20 m without peripheral PA stenosis in <40 yrs
☛ calcified mitral annulus <40 yrs
☛ 1 major+1 minor +ve
DURA
☛ MAJOR-lumbosacral dural ectasia
☛ MINOR-none
PULMONARY
☛ MINOR-spontaneous pneumothorax blebs
CUTANEOUS
☛ Stretch marks
☛ spontaneous hernia
DIAGNOSIS OF MARFANS
☛ Genetic analysis +ve—1 system +ve & 1 criteria of any other system
☛ 2 systems +ve & 1 criteria from 3rd system