Marfan syndrome (MFS) is an inherited connective tissue disease characterized by pathological changes in the heart and blood vessels, musculoskeletal system, and eyes.

1. Marfan Syndrome

2. Marfan syndrome (MFS) is
an inherited connective
disease characterized by
pathological changes in the
and blood vessels,
musculoskeletal system,
MFS is rare, happening in
in 5,000 people and affects
equally and occurs among
races and ethnic groups.

3. Characteristics and symptoms

4. Marfan syndrome is an
autosomal dominant disorder,
caused by defects or deletions
(mutations) in the fibrillin-1
(FBN1) located on chromosome
This gene is in control of the
of a protein called fibrilllin.
Fibrillin is an important part of
connective tissue.

5. People without the mutated gene
that causes Marfan syndrome
have large amounts of fibrillin in
their bones, heart and ligaments,
but people with Marfan’s lack
that fibrillin which causes their
ligaments to abnormally stretch.

6. Each parent with the condition has a
50% risk of passing the genetic
defect on to any child due to its
autosomal dominant nature.
About 75% of cases are inherited.
On the other hand, about 15–30% of
all cases are due to de novo genetic
mutations - such spontaneous
mutations occur in about one in
20,000 births.

7. Diagnostics
Diagnosis is based on family history, symptom severity,
physical examination, x-ray, ophthalmic, and DNA
analysis to determine the FBN1 gene mutation.
During the diagnosis, phenotypic diagnostic tests are
taken into account, which determine the ratio of the
hand and height, the length of the middle finger, the
body index, the thumb test for arachnodactyly, the wrist
coverage test.
An ECG detects heart rhythm disturbances.
Echocardiography reveals dilatation of the aorta, an
increase in the size of the left ventricle.

8. Marfan syndrome is a congenital disorder. However, symptoms are not always present at birth
and can develop at any point in life.
Therefore, this disease can be diagnosed in adolescence or young adulthood.
Prenatal testing for MFS can be carried out approximately 10 to 12 weeks into the pregnancy
using chorionic villus sampling (CVS).

9. Treatment
There is currently no cure for Marfan syndrome.
Regular monitoring and treatment options may
include:
- lifestyle changes
- regular echocardiogram tests to monitor heart and
aorta size and function
- heart surgery
- regular eye examinations and treatment
- regular check-ups to monitor the skeleton
- medication, such as beta-blockers, to reduce blood
pressure and relieve the strain on the cardiovascular
system

10. The duration and quality of life of patients depends on
the volume and severity of damage to the cardiovascular
system, skeleton and eyes.
Without treatment, the average life expectancy is 32
years. With full treatment, this figure increases to 60
years or more.
Recent Research
In 2017, The National Heart, Lung, and Blood Institute (NHLBI) in Bethesda, Maryland, United
States, conducted a study that focused on treating dilated aortas in people with Marfan
syndrome.
The study compared the effectiveness of two different drugs - losartan and atenolol. Both drugs
have been found to be safe and effective in reducing the rate of aortic dilation. The discovery
helped expand therapeutic options for people with the disorder and paved the way for future
research.

11. Thanks for
attention