Marfan’s Syndrome (MFS) is a connective tissue genetic disorder. Individuals with Marfan syndrome tend to be tall and thin, with long arms, legs, fingers and toes. Usually, they may have unstable joints and scoliosis. The most severe risks include the heart and aorta, with an elevated risk of prolapse of the mitral valve and aortic aneurysm. Other frequently affected areas include the lungs, skin, bones and spinal cord. its presence is an autosomal dominant condition. Approximately 75% of the time, the disorder is inherited from a parent, while 25% of the time it is a new mutation. It includes a gene mutation that produces fibrillin, resulting in irregular connective tissue.
Signs and Symptoms
Much of the readily recognizable symptoms apply to the skeletal system. Many people with Marfan’s syndrome grow to a higher than average height, and some have unusually long, slender limbs with thin, frail wrists and long fingers and toes.
The cardiovascular system involves the most serious signs and symptoms associated with Marfan’s syndrome: undue fatigue, shortness of breath, heart palpitations, heartbeats racing, or back, shoulder, or arm chest pain. Because of inadequate circulation, the cold arms, hands, and feet can also be connected to MFS. Further examination can suggest a heart murmur,
irregular reading on an ECG, or angina symptoms. Since underlying connective tissue malfunctions cause MFS, the occurrence of prosthetic mitral valve dehiscence is increased.
Pulmonary symptoms are not a significant feature of MFS but it is normal to have a spontaneous pneumothorax. Air escapes from a lung in spontaneous unilateral pneumothorax and occupies the pleural space between the chest wall and a lung. Partially the lung is squeezed or collapsed. That can lead to pain, shortness of breath, cyanosis, and death if not treated.
Other possible pulmonary manifestations of MFS include idiopathic obstructive lung disease and sleep apnea. Pathological changes in the lungs, such as cystic changes, emphysema, pneumonia, bronchiectasis, bullae, apical fibrosis and congenital malformations such as hypoplasia of the middle lobe were identified.
Dural ectasia, a deterioration of the dural sac’s connective tissue enclosing the spinal cord may lead to a loss of quality of life. It can be present for a long time, with no noticeable symptoms. Symptoms that may occur are lower back pain, pain in the legs, abdominal pain, other lower extremity neurological symptoms, or headaches-symptoms that usually diminish when lying flat. Many spinal disorders related to MFS include degenerative disc disease, spinal cysts and autonomic nervous system dysfunction.
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