SPOTTERS MEDICINE
MARFAN’S SYNDROME – BRIEF NOTES
🔹 Definition:
Marfan’s
Syndrome is a genetic connective tissue disorder affecting the skeletal
system, cardiovascular system, eyes, and skin, caused by mutations in
the FBN1 gene encoding fibrillin-1.
🔹 Genetic Basis:
- Autosomal dominant inheritance
- Mutation in FBN1 gene on chromosome
15
- Affects elastic fibers in
connective tissue
- Variable expressivity and
penetrance
🔹 Affected Systems and Clinical
Features:
🔸 Skeletal:
- Tall, thin build with long
limbs (dolichostenomelia)
- Arachnodactyly (long, slender fingers)
- Pectus excavatum (sunken chest) or pectus
carinatum (pigeon chest)
- Scoliosis or kyphosis
- Joint hypermobility
- High-arched palate
- Arm span > height
🔸 Cardiovascular:
- Aortic root dilatation → aortic aneurysm/dissection
- Mitral valve prolapse
- Risk of sudden cardiac death
🔸 Ocular:
- Ectopia lentis (lens dislocation, usually
upward and outward)
- Myopia
- Retinal detachment
🔸 Other:
- Stretch marks (striae)
- Dural ectasia (widening of dural
sac)
🔹 Diagnosis:
🔸 Clinical Criteria – Revised Ghent
Criteria:
- Aortic root dilation or
dissection
- Ectopia lentis
- Systemic score (based on
skeletal and other features)
- FBN1 mutation or family history
🔸 Investigations:
- Echocardiogram – to detect aortic root
dilation
- Slit-lamp exam – for ectopia lentis
- Genetic testing – confirmatory (FBN1 mutation)
- MRI spine – if dural ectasia
suspected
🔹 Differential Diagnosis:
- Homocystinuria (has lens
dislocation downward + mental retardation)
- Loeys-Dietz syndrome
- Ehlers-Danlos syndrome
🔹 Management:
- No cure – lifelong monitoring and
supportive care
- Beta blockers or Angiotensin receptor
blockers (ARBs) to slow aortic dilation
- Lifestyle modification – avoid contact sports, heavy
lifting
- Surgical repair of aortic root if enlarged
- Lens replacement in severe ectopia lentis
- Genetic counseling for families
🔹 Prognosis:
- Improved survival with regular cardiac monitoring
and prophylactic surgery
- Risk of aortic rupture if
not managed timely
- Normal lifespan possible with
early diagnosis and treatment
DR.C.GANESAN M.D.
PROFESSOR OF MEDICINE
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