Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.

1. MARFAN SYNDROME
PRESENTER: Dr.SHASIDHAR REDDY

2. INTRODUCTION
• Marfan syndrome (MFS) is an inherited, systemic, connective
tissue disorder caused by mutations in the gene encoding the
extracellular matrix (ECM) protein fibrillin-1.
• It is primarily associated with skeletal,cardiovascular, and
ocular pathology.
• The diagnosis is based on clinical findings, some of which are
age dependent.

3. EPIDEMIOLOGY
• The incidence is reported to be 1 in 10,000 live births.
• This disorder shows autosomal dominant inheritance.

4. PATHOGENESIS
• MFS is associated with abnormal production, matrix
deposition and/or stability of fibrillin-1, which is the major
constituent of microfibrils, with prominent disruption of
microfibrils and elastic fibers in diseased tissues.

5. CLINICAL MANIFESTATIONS
• MFS is a multisystem disorder, with cardinal manifestations in
the skeletal, cardiovascular, and ocular systems.
SKELETAL MANIFESTATIONS:
• Dolichostenomelia - Overgrowth of the long bones is often
the most obvious manifestation of MFS and may produce a
reduced upper segment: lower segment ratio (US : LS) or an
arm span to height ratio >1.05 times.
• Anterior chest deformity due to excessive rib growthand
pushing sternum either outward-pectus carinatum or inward-
pectus excavatum.

6. • Thoracolumbar scoliosis.
• Protrusio acetabuli (Inward bulging of acetabulum into pelvic
cavity)
• Pes planus(flat feet)
• Joint hypermobility/contractures
• Arachnodactyly(long and slender fingers)
• Contractures of fingers and elbows
• Craniofacial manifestations- Dolicocephaly(narrow skull)
Enophthalmos(deep set eyes)
• Retrognathia/micrognathia
• Malar hypoplasia (flattening of midface)

7. • CARDIOVASCULAR MANIFESTATIONS:
• Thickening of atrioventricular valves associated with valvular
prolapse.
• In children with early onset and severe MFS insufficiency of
the mitral valve can lead to congestive heart
failure,pulmonary hypertension and death in infancy.
• Aortic aneurysm, dissection and rupture, principally at the
level of the sinuses of Valsalva (aortic root), remains the most
life-threatening manifestations of MFS.

8. • OTHER SYSTEMS:
SKIN:
• Stretch marks- pinkish,scar like lesions that later become
white(striae atrophicae)
LUNGS:
• Progressive anterior chest deformity or thoracic scoliosis
• Spontaneous pneumothorax – due to widening of distal air
spaces.

9. • OCCULAR MANIFESTATIONS:
• Ectopia lentis(Dislocation of the ocular lens)- occurs in
approximately 60-70% of patients.
• Early and severe myopia, flat cornea, increased axial length of
the globe, hypoplastic iris.
• Patients are also predisposed to retinal detachment and early
cataracts or glaucoma.

10. DIAGNOSIS
• The diagnosis is based on a defined set of clinical criteria
drawn up by an international panel of experts: revised Ghent
nosology for the MFS

13. MANAGEMENT
• Management focuses on preventing complications and
genetic counseling.
• Regular evaluations for cardiovascular disease, scoliosis, or
ophthalmologic problems to be done.

14. Mitral valve prolapse:
• Most patients with mitral valve prolapse do not require
treatment unless they have symptoms. If the patient becomes
symptomatic:
o Medication: beta blockers (these reduce blood pressure and
the heart beats with less force) and aspirin (reduces risk of
blood clots)
o Surgery: Surgery is not very common except with severe
prolapse
 Valve repair: Valve repair preserves the patient tissue
 Valve replacement: The valve is replaced by a
mechanical valve or animal tissue.

15. Aortic dissection:
• Aortic dissection requires surgery.
• Part of the dissected aorta is removed to prevent blood from
entering the aortic wall, and reconstruct the aorta with a
synthetic tube.

16. Aortic dilation:
• Aortic dilation requires surgical management. It should be
performed when the aorta is 4.5-5 cm, the rate of growth is 0.5
cm or more, and there is the presence of aortic regurgitation.

17. PROGNOSIS
• The major cause of mortality is aortic root dilation, dissection,
and rupture, with the majority of fatal events occurring in the
3rd and 4th decade of life.
• A reevaluation of life expectancy in MFS suggests that early
diagnosis and refined medical and surgical management has
greatly improved the prognosis for patients with the
condition.
• In the more classic form of MFS, it is estimated that more than
90% of individuals will have a cardiovascular event during
their lifetime, placing both physical and mental stress on
patients and their families.

18. REFERENCE
• NELSON TEXTBOOK OF PEDIATRICS-FIRST SOUTH ASIA
EDITION.
• IAP TEXTBOOK OF PEDIATRICS.