Dr Ahmed Adam Mohamed MD

1. MARFAN SYNDROME
Dr Ahmed Adam

2. Definition
• 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. What Is Marfan Syndrome?
• Marfan syndrome is a condition in which your body's
connective tissue is abnormal.
• Marfan syndrome most often affects the connective
tissue of the heart and blood vessels, eyes, bones,
lungs, and covering of the spinal cord.
• It is agenetic disorder.
• A mutation, or change, in the gene that controls how
the body makes fibrillin causes Marfan syndrome.
• Fibrillin is a protein that plays a major role in your
body's connective tissue.

4. History of disorder
• Antoine Bernard-Jean Marfan (June 23, 1858 –
February 11, 1942),
• A French pediatrician.
• In 1896, Marfan described a hereditary disorder
of connective tissue in a 5 yr old girl with
• disproportionately long
• limbs that later became to
• be known as Marfan syndrome

5. • Genetic disorder of the connective tissue
• Occurs in about 1 in 5000 people
• Occurs equally in males and females
• Similar rates among different races and in
different regions of the world
• Autosomal dominant disorder
• About 3 out of 4 people with Marfan
syndrome inherit it from a parent; 1 out of 4
have the condition due to a spontaneous
mutation

6. Pathogenesis
• Caused by mutations in the FBN1 gene on
chromosome 15, which encodes fibrillin-1 (a
glycoprotein component of the extracellular
matrix)
• Fibrillin-1 is essential in formation of elastic
fibres found in connective tissues

7. What Causes Marfan Syndrome?
- genetic disorder. A mutation, or change,
- in the gene that controls how the body makes
fibrillin.
- Chromosomes 15 are mutated

8. CLINICAL MANIFESTATIONS
• MFS is a multisystem disorder with cardinal
manifestations in
• the skeletal cardiovascular
• ocular systems

9. SKELETAL MANIFESTATIONS:
- 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
growth and pushing sternum either
• outward-pectus carinatum or inwardpectus
excavatum.

10. SKELETAL MANIFESTATIONS

11. SKELETON:
• Tall and slender bodies
• Long fingers and toes
• Arm spans longer than their body height
• Unusually flexible joints
• Narrow face
• High arched roof of mouth
• Crowded teeth
• Scoliosis
• Sunken or protruding chests

12. SKELETON

13. EYES:
• Dislocation of one or both eye lenses
• Retinal detachment
• Nearsightedness
• Glaucoma
• Cataracts

14. CARDIOVASCULAR SYSTEM:
• Aortic dilatation
• The wall of the aorta may be weakened and stretched
• Aortic dissection
• When the aorta tears
• Sudden death
• Heart murmurs Doctors hear through stethoscopes
• Large murmurs can result
• in shortness of breath,
• fatigue, and
• palpitations

15. SKIN:
• Stretch marks
• Even without weight change
• Can occur at any age and involve no health
risks
• Abdominal or inguinal hernia
• A bulge containing parts of the intestines

16. LUNGS:
• Progressive anterior chest deformity or
thoracic scoliosis
• Spontaneous pneumothorax – due to
widening of distal air spaces.

17. Mar fan's mnemonic
• Mitral valve prolapse
• Aortic aneurysm
• Retinal detachment
• Flexible ,fibril-1mutation
• Arachnodactyly
• Negative nitroprusside test
• scoliosis

18. Marfan Syndrome Diagnosed
1-Medical and Family Histories
• doctor will ask about medical history of patient and family's medical
history.
2- Physical Exam
• check the curve of your spine and the shape of feet.
• doctor also will listen to your heart and lungs with a stethoscope.
3- Echocardiography
4- MRI and CT scan
5- Slit-Lamp Exam
• can find out whether you have a dislocated lens, cataracts, or a
detached retina.
6- Genetic Testing

19. Diagnosed

20. Diagnosis: wrist and thumb signs

21. LABORATORY FINDINGS
• Most, if not all, people with
• classic MFS have an FBN1
• mutation, the large size of this
• gene and the extreme allelic
• heterogeneity in MFS have
• frustrated efficient molecular
• diagnosis. The yield of
• mutation screening varies
• based on technique and
• clinical presentation

22. Neonatal Marfan syndrome (nMFS)
• Marfan syndrome occurring during the
neonatal period (in newborns)
• Most severe, life-threatening phenotype of
MFS with a poor prognosis

23. MANAGEMENT
• Management focuses on preventing
complications and genetic counseling.
• Yearly evaluations for cardiovascular disease,
• scoliosis, or ophthalmologic problems are
• imperative.

24. Treatments
1- Heart Treatments include:
- Medical : Beta blockers that help heart beat slower ,relieve
• strain and slow the rate of aortic dilation.
- Surgical: Doctor may recommend surgery to repair or replace part of aorta
and mitral valve.
2- Eye Treatments
• Glasses or contact lenses can help with some of these problems.
• Sometimes surgery is needed.
3- Nervous System Treatments
• Dural ectasia usually is treated with pain medications
4- Lung Treatments
• Chest tube use to treat pneumothorax ( remove the air in chest
• cavity).
• Sometimes surgery is needed.

25. Thank you