Marfan syndrome (MFS) is in particular, a connective tissue genetic disorder. In this case, Individuals with Marfan syndrome tend to be tall and slim, with long arms, legs, fingers and toes. Moreover, usually, they have flexible joints and scoliosis, too. Likewise, the most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Additionally, other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.it is an autosomal dominant disorder. The disorder is inherited from a parent about 75% of the time, although it is a new mutation of 25% of the time. So, it includes a mutation to the gene that creates fibrillin, leading to irregular connective tissue.
SIGNS & SYMPTOMS OF MARFAN SYNDROME
With this in mind, much of the easily recognizable symptoms apply to the skeletal system. So, many individuals with Marfan’s syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes.
Ectopia lentis, Lens dislocation, other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, strabismus, exotropia, and esotropia.
Undoubtedly, the most serious signs and symptoms associated with Marfan’s syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. Because of inadequate circulation, the cold arms, hands, and feet are connected to MFS. Further examination can suggest a heart murmur, irregular reading on an ECG, or angina symptoms. Because underlying connective tissue abnormalities cause MFS, the incidence of dehiscence of the prosthetic mitral valve is increased.
Pulmonary symptoms are not a major feature of MFS. 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. Cystic changes, emphysema, pneumonia, bronchiectasis, bullae, apical fibrosis and congenital malformations such as hypoplasia of the middle lobe have been identified as pathological changes in the lungs.
Dural ectasia, a weakening of the dural sac’s connective tissue enclosing the spinal cord, can lead to a loss of quality of life. It can be present for a long time, with no visible symptoms. Symptoms that can arise include lower back pain, pain in the hands, stomach pain, other lower extremity neurological symptoms, or headaches-symptoms that generally worsen while lying flat. Other spinal issues associated with MFS include degenerative disc disease, spinal cysts, and dysfunction of the autonomic nervous system.
So, Marfan’s syndrome (MFS) is a genetic disorder of the connective tissue. In particular, individuals with Marfan syndrome tend to be tall and slim, with long arms, legs, fingers and toes. In particular, usually, they have flexible joints and scoliosis, too. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Lungs, eyes, bones and the covering of the spinal cord. It is an autosomal dominant disorder. The condition is inherited from a parent 75% of the time, it is a new mutation 25% of the time. So, it involves a mutation to the gene that makes fibrillin, which results in abnormal connective tissue.