Marfan syndrome is an inherited disorder affecting the connective tissues and is marked by tall slender built. The severity of the symptoms will increase over time and this syndrome is caused due to gene mutation. No treatment is available to control Marfan syndrome but symptoms can be managed without complications. The connective tissues are nothing but group of fibers that covers your organs and this disorder affects the connective tissue of the entire body.
Symptoms :
The symptoms are not the same for every child affected with marfan syndrome. Some of the common anatomical features of the children affected with this disorder are given below:-
Skeleton :
The bones of these children are tall and slender. Hence it will result in the development of long arms and long legs with lengthy fingers and toes. The hands and legs will not be matching with that of other body features. The child will have a long narrow face and the roof of the oral cavity can be circular which can seriously affect the teeth alignment. The breastbone is either bent in or protruding out and the spinal cord is overly curved.
Eyes :
Very often the children affected with marfan syndrome will have serious eye problems. They may develop shortsightedness in early age and the lens of the eyes can be dislocated. Retina may found to be detached from the socket causing more complication. Many children may develop Glaucoma and cataracts due to lack of clarity in the lens.
Cardiovascular System :
Since connective tissues are very much present in vital organs like heart and lungs, this disorder will affect the blood vessels also. The wall of aorta (major valve in the heart) can become weak causing aortic dilation. It can cause sudden Heart Attack and even death if the aortic wall explodes. Many children with this problem will have leakage of blood from the valves indicated through heart murmur. Over years it can cause shortness of breath and fast heartbeat.
Nervous System :
Dura is the soft membrane that covers the fluid in which the brain and spinal cord are located. Over time this dura will get weakened (due to the presence of connective tissue) which will eventually cause wear and tear of the bone that envelops the spine. This can cause intense pain in the abdomen and numbness or tingling sensation in the legs.
Skin :
There will be Stretch Marks here and there in the skin but it is harmless. Children may develop abdominal hernia in later years causing complications. Their feet will be abnormally flat.
Lungs :
The tiny sacs that envelop the lungs have connective tissues and hence there is every chance for the air sacks to become swollen.
Causes :
It is believed to be caused by defective genes that will eventually do not give rigidness and strength to the connective tissues of the body. Children with marfan syndrome will inherit the defective gene from one of his parents. For some children abnormal genes can stem up from new mutation if the parents do not have this disorder. A child has 50% of chance for inheriting this disorder from his parents. The defective genes will not be the same for every child and are different for different children.
Who are at risk?
If any one of the parent have this disorder, the child has more than 50% chance for inhering this syndrome. Marfan syndrome equally affects men and women of all races. Certain cardiovascular complications may develop in the child after some years. Due to defective connective tissue aortic Aneurysm, aortic dissection and valve abnormalities are common in these children. Eye problems like retinal dislocation, lens dislocation, glaucoma or cataract are likely to happen anytime during the early ages of the child.
Diagnoses :
Your doctor will look for the symptoms of tall and slender built and the abnormal development of hands and legs to ascertain this disorder in the child. As such, no lab tests are available to detect marfan syndrome. He may order for heart tests like echo, eye tests for evaluating vision and tests for genetic analysis. Various heart tests include ECG, echocardiogram, and color Doppler scan of the heart. Eye testing includes slit lamp examination and testing the eyes for pressure. He would collect the history of your family to ascertain whether marfan syndrome was present in any of your ancestors. Treatment should be combined effort of pediatrician, cardiologist, orthopedic surgeon and an ophthalmologist.
Treatment :
No cure is available for marfan syndrome, since it is of genetic origin. However treatment options are available to minimize the symptoms and to prevent further complications. Each year detailed evaluation is to be done for tracing any changes in the spine. In the early years of childhood orthopedic surgery can be done for limiting the disfigurement and damage caused to heart and lungs. The child should be monitored for vision problems and wear proper contact lenses of right power. In rare cases, cataract surgery has to be done.
Annual checkups are absolutely necessary to evaluate the size of aorta and to check the functioning of heart valves. Some of the valve problems can be managed through beta blockers which is effective in reducing the pressure buildup in aorta. Some children will have to be operated for valve leakage. Surgery to be done in the right stage before the aorta poses heavy risk of rupturing. Your cardiologist will monitor the child’s heart continuously to avoid inflammation of heart cavity.
Breastbone surgery can be done to promote normal breathing of the child. Medications are given for managing the pain developed due to swelling of dural ectasia. Doctors suggest some children to wear custom made braces to prevent curvature of the spine and to avoid surgery. Women with Marfan syndrome can become pregnant but has to be in close observation with the doctor. Doing aerobic exercises and eating a balanced diet will help in development of skeletal and cardiovascular muscles. Lifespan of children affected with Marfan syndrome will be normal unless they develop any serious complications.
Lifestyle Modifications :
It is very difficult to know that one has to live with a serious genetic disorder like Marfan syndrome. One has to undergo severe emotional trauma to manage to live with several abnormalities. As a grown up person, he/she will have the concern of passing on the genes to next generation. Hence the person should be given emotional as well as social support.
Such children will be advised to restrict certain activities like playing baseball or indulging in sports events to avoid further damage to the heart and lungs. Psychological counseling should be done to boost one’s self esteem and physiotherapy is given for managing motor activities. The child should be updated about the disorder so that he/she would manage to live with it. Marfan syndrome is a chronic disorder and through medical supervision and guided counseling therapies one can overcome the physical as well as emotional struggle.
