Marfan syndrome is the result of genetic mutation and haploinsufficiency. The diagnosis is based on visible physical traits such as long appendages, fingers, and toes. Though there is no complete cure for the condition, there are a number of preventive measures in place to monitor the associated traits that cause discomfort.
Marfan syndrome is a dominant trait inherited, and refers to a connective tissue related genetic disorder. The FBN1 gene that encodes fibrillin-1, a connective protein, is normally observed as a pair. The condition manifests in a person who inherits an impaired FBN1 gene. It could range from mild to severe, and is characterized by tall stature and long limbs. It results in defects of the aorta and heart valves, lungs, eyes, skeleton, dural sac, and/or the hard palate. Fibrillin-1 binds to other protein and causes TGF-β triggered inflammation.
Marfan syndrome is named after Antoine Marfan. In 1896, the French pediatrician was the first to record the condition after a detailed study around a 5-year-old. Almost a decade later, in 1891, Francesco Ramirez linked the gene to the disease at the Mount Sinai Medical Center, New York City.
This syndrome is caused on account of FBN1 gene mutations, on chromosome 15. The affected encoding of glycoprotein fibrillin-1 results in improper formation, biogenesis and maintenance of the extracellular matrix. The latter is vital for connective tissue structure, and acts as a reservoir for a number of human growth factors. These fibers are concentrated in the aorta, ciliary zonules of the eye and ligaments.
The condition is diagnosed easily in the observation of dislocated lenses, long limbs, and aortic root dilation. The other symptoms are associated with defects in the joints, skin, and skeleton. Within the skeletal system, growth above average height, long limbs, fingers and toes, weak wrists, abnormal spine curvature, protrusion of the sternum, malocclusions, flat feet, and speech disorders are the common signs of the condition. It brings on nearsightedness and astigmatism, subluxation of the crystalline lens, and detachment of the retina.
Within the cardiovascular system, the condition manifests in the form of fatigue, breathlessness, palpitations, heart murmur, angina pectoris, prolapse of mitral or aortic valves, aortic aneurysm, and dehiscence of prosthetic mitral valve. This condition increases the risk of developing spontaneous pneumothorax, cyanosis, sleep apnea, and obstructive lung disease. It greatly affects the quality of life with lower back pain, pain in the legs and abdomen, and frequent headaches. The condition is associated with dysautonomia.
The treatment options are adopted after a clinical analysis of the patient’s family history and displayed skeletal, ocular, and cardiovascular signs and symptoms. The syndrome or condition is characterized by the co-occurrence of Beals syndrome, homocystinuria, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Stickler syndrome, and type 2B of multiple endocrine neoplasia. Though there is no cure, timely clinical analysis increases life expectancy via preventive medication to slow down aortic dilation. The treatment options involve regular checkups to monitor heart health. Doctors prescribe beta blockers to slow down the heart rate and control arrhythmias. Medication is also prescribed to lower high blood pressure, in the form of angiotensin II receptor antagonists and ACE inhibitors. Surgery for aortic valve graft or valve-sparing is also part of the treatment process. Doctors address skeletal and ocular manifestations with the help of muscle relaxants, skeletal adjustment, ultrasound therapy, Nuss procedure, and acetazolamide.