described by a French Doctor back in 1896 Bernard J A Marfan.
Marfan syndrome is a heritable condition caused by a
single abnormal (mutant) gene on Chromosome 15. This abnormal gene controls
production of fibrillin, a very fine fibre found in connective tissue that
affects the connective tissue. The primary purpose of connective tissue is
to hold the body together and provide a framework for growth and
development. In Marfan syndrome, the connective tissue is defective and does
not act as it should. Because connective tissue is found throughout the
body, Marfan syndrome can affect many body systems, including the skeleton,
eyes, heart and blood vessels, nervous system, skin, and lungs.
Marfan syndrome affects men, women, and children,
and has been found among people of all races and ethnic backgrounds. It is
estimated that at least 1 in 5,000 people have the disorder.
What Are the Characteristics of Marfan Syndrome
Marfan syndrome affects different people in
different ways. Some people have only mild symptoms, while others are more
severely affected. In most cases, the disorder progresses as the person
ages. The body systems most often affected by Marfan syndrome are:
• Skeleton--People with Marfan syndrome are
typically very tall, slender, and loose jointed. Since Marfan syndrome
affects the long bones of the skeleton, arms, legs, fingers, and toes may be
disproportionately long in relation to the rest of the body. A person with
Marfan syndrome often has a long, narrow face, and the roof of the mouth may
be arched, causing the teeth to be crowded. Other skeletal abnormalities
include a sternum (breastbone) that is either protruding or indented,
curvature of the spine (scoliosis), and flat feet.
• Eyes--More than half of all people with Marfan
syndrome experience dislocation of one or both lenses of the eye. The lens
may be slightly higher or lower than normal and may be shifted off to one
side. The dislocation may be minimal, or it may be pronounced and obvious.
Retinal detachment is a possible serious complication of this disorder. Many
people with Marfan syndrome are also nearsighted (myopic), and some can
develop early glaucoma (high pressure within the eye) or cataracts (the
eye's lens loses its clearness).
• Heart and blood vessels (cardiovascular
system)--Most people with Marfan syndrome have abnormalities associated with
the heart and blood vessels. The valve between the left chambers of the
heart is defective and may be large and floppy, resulting in an abnormal
valve motion when the heart beats. In some cases, the valve may leak,
creating a "heart murmur," which a doctor can hear with a stethoscope. Small
leaks may not cause any symptoms, but larger ones may cause shortness of
breath, fatigue, and palpitations (a very fast or irregular heart rate).
Because of faulty connective tissue, the wall of the aorta (the large artery
that carries blood from the heart to the rest of the body) may be weakened
and stretch, a process called aortic dilation. Aortic dilation increases the
risk that the aorta will tear (aortic dissection) or rupture, causing
serious heart problems or sometimes sudden death.
• Nervous system--The brain and spinal cord are
surrounded by fluid contained by a membrane called the durra, which is
composed of connective tissue. As people with Marfan syndrome get older, the
durra often weakens and stretches, then begins to weigh on the vertebrae in
the lower spine and wear away the bone surrounding the spinal cord. This is
called dural ectasia. These changes may cause only mild discomfort or may
lead to radiated pain in the abdomen or to pain, numbness, or weakness of
• Skin--Many people with Marfan syndrome develop
stretch marks on their skin, even without any weight change. These stretch
marks can occur at any age and pose no health risk. However, people with
Marfan syndrome are also at increased risk for developing an abdominal or
inguinal hernia where a bulge develops that contains part of the intestines.
• Lungs--Although connective tissue abnormalities
make the tiny air sacs within the lungs less elastic, people with Marfan
syndrome generally do not experience noticeable problems with their lungs.
If, however, these tiny air sacs become stretched or swollen, the risk of
lung collapse may increase. Rarely, people with Marfan syndrome may have
sleep-related breathing disorders such as snoring or sleep apnea (a sleep
disorder characterized by brief periods when breathing stops).