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Marfan syndrome (MFS) is a systemic connective tissue disorder caused by a mutation in the FBN1 gene, which encodes fibrillin-1, a crucial glycoprotein for extracellular matrix integrity.

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https://www.youtube.com/watch?v=p4Ev9KEyw78

https://www.youtube.com/watch?v=Kg4YBYTGmjE

It primarily affects the skeletal, cardiovascular, and ocular systems, and patients are at risk of life-threatening aortic aneurysm/dissection.

Etiology

Feature	Description
Gene	FBN1 (fibrillin-1) on chromosome 15q21.1
Inheritance	Autosomal dominant (~75% familial, ~25% de novo mutations)
Pathophysiology	Defective fibrillin → impaired elastic fiber formation → connective tissue fragility

Clinical Features

Multisystem Involvement:

System	Manifestations
Skeletal	- Tall stature, long limbs (dolichostenomelia)

‣ ****- Pectus deformities (carinatum/excavatum)
Scoliosis
Joint hypermobility | | Ocular | - Ectopia lentis (upward lens dislocation)
Myopia
Retinal detachment | | Cardiovascular | - Aortic root dilation → aneurysm/dissection
Mitral valve prolapse | | Pulmonary | - Spontaneous pneumothorax
Apical blebs
Restrictive lung disease | | Skin | - Striae (even in non-obese individuals) | | Dural ectasia | Enlargement of dural sac (seen on MRI) |

Complications

System	Complication
Cardiac	Aortic dissection, aneurysm, regurgitation, CHF
Ocular	Retinal detachment, lens dislocation
Orthopedic	Progressive scoliosis, pectus deformities
Pulmonary	Spontaneous pneumothorax, restrictive lung disease
Neurologic	Dural ectasia → back pain, radiculopathy

Radiology

Region	Imaging Modality	Key Findings
Chest (CXR, CT)	XR/CT	Aortic root dilation, cardiomegaly, pneumothorax
Spine	XR/MR	Scoliosis, kyphosis, dural ectasia (lumbosacral widening)
Pelvis	XR	Protrusio acetabuli
Echocardiography	US	Aortic root size, mitral valve prolapse
Brain	MR	Meningeal cysts

Management

General Measures