Marfan syndrome (MFS) [मार्फन सिन्ड्रोम] is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord. However, Siddha Spirituality of Swami Hardas Life System considers that our readers, although must have seen people affected with Marfan Syndrome around, they should know what it is about. So read about symptoms, diagnosis, medications, management, and facts.
Marfan syndrome Definition
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
Marfan syndrome Symptoms (मार्फन सिन्ड्रोम के लक्षण)
More than 30 different signs and symptoms are variables associated with Marfan syndrome. The most prominent of these affect the skeletal, cardiovascular, and ocular systems, but all fibrous connective tissue throughout the body can be affected.
Skeletal system (कंकाल प्रणाली)
Most of the readily visible signs are associated with the skeletal system. Many individuals with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes.
Besides affecting height and limb proportions, people with Marfan syndrome may have:
- Abnormal lateral curvature of the spine
- Thoracic lordosis
- Abnormal indentation or protrusion of the sternum
- Abnormal joint flexibility
- High-arched palate with crowded teeth and an overbite
- Flat feet
- Stooped shoulders
- Unexplained stretch marks on the skin
It can also cause pain in the joints, bones, and muscles. Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws. Early osteoarthritis may occur. Other signs include limited range of motion in the hips due to the femoral head protruding into abnormally deep hip sockets.
In Marfan syndrome, the health of the eye can be affected in many ways, but the principal change is partial lens dislocation, where the lens is shifted out of its normal position. This occurs because of weakness in the ciliary zonules, the connective tissue strands which suspend the lens within the eye.
Nearsightedness and blurred vision are common, but farsightedness can also result particularly if the lens is highly subluxated. Partial dislocation of the lens can be detected clinically in 80% of people with Marfan syndrome by the use of a slit-lamp biomicroscope.
Other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, strabismus, exotropia, and esotropia.
Cardiovascular system (हृदय प्रणाली)
The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system:
- Undue fatigue
- Shortness of breath
- Heart palpitations
- Racing heartbeats
- Chest pain radiating to the back
- Shoulder, or arm pain
- Cold arms, hands, and feet
- Heart murmur
- Abnormal reading on an ECG
- Symptoms of angina can indicate further investigation
The signs of regurgitation from prolapse of the mitral or aortic valves, which control the flow of blood through the heart. It results from cystic medial degeneration of the valves, which is commonly associated with Marfan syndrome. However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm.
Sometimes, no heart problems are apparent until the weakening of the connective tissue in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency.
Pulmonary symptoms are not a major feature of Marfan syndrome, but spontaneous pneumothorax is common. In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the pleural space between the chest wall and a lung. The lung becomes partially compressed or collapsed.
This can cause pain, shortness of breath, cyanosis, and, if not treated, death. Other possible pulmonary manifestations of MFS include sleep apnea and idiopathic obstructive lung disease.
The nervous system (तंत्रिका तंत्र)
Dural ectasia, the weakening of the connective tissue of the dural sac encasing the spinal cord, can result in a loss of quality of life. It can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are:
- Lower back pain
- Leg or Knee pain
- Abdominal pain
- Other neurological symptoms in the lower extremities
- Headaches – symptoms usually diminish when lying flat
Marfan syndrome Genetics (मार्फन सिंड्रोम जेनेटिक्स)
Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member. About 15–30% of all cases are due to de novo genetic mutations; such spontaneous mutations occur in about one in 20,000 births.
Marfan syndrome is also an example of a dominant-negative mutation and haploinsufficiency. It is associated with variable expressivity; incomplete penetrance has not been definitively documented.
Marfan syndrome Diagnosis (मार्फन सिंड्रोम निदान)
Diagnosis is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individual – for example four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual.
The following conditions may result from Marfan syndrome, but may also occur in people without any known underlying disorder:
- Aortic aneurysm or dilation
- Bicuspid aortic valve
- Cystic medial necrosis
- Degenerative disk disease
- Deviated septum
- Dural ectasia
- Early cataracts
- Early glaucoma
- Early osteoarthritis
- Ectopia lentis
- Eye iris coloboma
- Above-average height
- Heart palpitations
- High-arched palate
- Hypermobility of the joints
- Kyphosis (hunched back)
- Leaky heart valve
- Micrognathia (small lower jaw)
- Mitral valve prolapse
- Myopia (nearsightedness)
- Obstructive lung disease
- Osteopenia (low bone density)
- Pectus carinatum or excavatum
- Pes planus (flat feet)
- Pneumothorax (collapsed lung)
- Retinal detachment
- Sleep apnea
- Stretch marks not from pregnancy or obesity
- Teeth crowded
- Narrow, thin face
- Temporomandibular joint dysfunction (TMD)
Marfan syndrome Management (मार्फन सिंड्रोम प्रबंधन)
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades and is now similar to that of the average person. To monitor the health of the heart valves and the aorta, regular checkups are recommended.
The goal of this treatment strategy is to slow the progression of aortic dilation and prevent any damage to heart valves by eliminating heart arrhythmias, minimizing the heart rate, and lowering blood pressure.
Physical activity (शारीरिक गतिविधि)
The American Heart Association made the following recommendations for people with Marfan syndrome with no or mild aortic dilation:
- Probably permissible activities: bowling, golf, skating (but not ice hockey), snorkeling, brisk walking, treadmill, stationary biking, modest hiking, and doubles tennis.
- Intermediate risk: basketball (both full- and half-court), racquetball, squash, running (sprinting and jogging), skiing (downhill and cross-country), soccer, singles tennis, touch (flag) football, baseball, softball, biking, lap swimming, motorcycling, and horseback riding.
- High risk: bodybuilding, weightlifting (non-free and free weights), ice hockey, rock climbing, windsurfing, surfing, and scuba diving.
Marfan syndrome Medication (मार्फन सिंड्रोम दवा)
Management often includes the use of beta-blockers such as propranolol or if not tolerated calcium channel blockers or ACE inhibitors.
If the dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or a rupture, or leads to failure of the aortic or another valve, then surgery becomes necessary. Surgery in the setting of acute aortic dissection or rupture is considerably more problematic.
New valve-sparing surgical techniques are becoming more common. As people with Marfan syndrome live longer, other vascular repairs are becoming more common, e.g., repairs of descending thoracic aortic aneurysms and aneurysms of vessels other than the aorta.
The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in an appropriate manner for the condition, such as with pain medications or muscle relaxants.
Because Marfan syndrome may cause asymptomatic spinal abnormalities, any spinal surgery contemplated on a person Marfan should only follow detailed imaging and careful surgical planning, regardless of the indication for surgery.
Treatment of a spontaneous pneumothorax is dependent on the volume of air in the pleural space and the natural progression of the individual’s condition. A small pneumothorax might resolve without active treatment in one to two weeks. Recurrent pneumothoraces might require chest surgery.
Moderately sized pneumothoraces might need chest drain management for several days in a hospital. Large pneumothoraces are likely to be medical emergencies requiring emergency decompression.
During pregnancy, even in the absence of preconception cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated. Women with Marfan syndrome, then, should receive a thorough assessment prior to conception, and echocardiography should be performed every six to 10 weeks during pregnancy, to assess the aortic root diameter. For most women, safe vaginal delivery is possible.
Marfan syndrome Facts (मार्फन सिंड्रोम के तथ्य)
About 1 in 5,000 to 10,000 individuals have Marfan syndrome. It occurs equally in males and females. Rates are similar between races and in different regions of the world. It is named after Antoine Marfan, a French pediatrician who first described the condition in 1896.
There is no known cure for Marfan syndrome. Many people have a normal life expectancy with proper treatment. Management often includes the use of beta-blockers such as propranolol or atenolol or, if that is not tolerated, calcium channel blockers or ACE inhibitors. Surgery may be required to repair the aorta or replace a heart valve. It is recommended that strenuous exercise be avoided.