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What do a Marfan syndrome diagnosed person would undergo?

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prasanthvs
What do a Marfan syndrome diagnosed person would undergo?

Marfan syndrome is a major disease, which has affected more than 200,000 people in America alone. As a result, medical fraternities from all across the globe have been involved in finding a way out. As it is, diagnosis plays a very important role in the treatment of Marfan syndrome.


Marfan syndrome is a genetic disorder, and an inherited connective-tissue disorder transmitted as an autosomal dominant trait. What makes it a major area of concern is the fact, that, it is a worldwide phenomenon, apart from its relatively high prevalence, clinical variability, and pleiotropic manifestations, some of which are life-threatening.


As a person suffering from Marfan syndrome, regular checkups by a cardiologist who is an expert on treating Marfan syndrome treatment in Coimbatore are needed to monitor the health of your heart valves and the aorta. The Idea of this treatment is to slow the progression of aortic dilation and damage to heart valves. This is done, by minimizing the heart rate, eliminating arrhythmias, and minimizing blood pressure. For this purpose, beta-blockers are used to control arrhythmias as well as to slow down the heart rate. Apart from it, several other medications may be used, to keep the condition under control. Further medication might be needed to further minimize blood pressure without slowing the heart rate.


However, the most evident signs in regard to Marfan syndrome can be associated with the skeletal system. Many people suffering from Marfan syndrome grow to above-average height. Many of them have long slender limbs, as well as abnormally long and slender fingers. This long, slender body and long, slender limbs are the most evident and visible signs of Marfan syndrome and is known as Dolochostenomelia. So, an individual’s arms may be disproportionately long, with thin, weak wrists.


Apart from having a great effect on the height and limb proportions, Marfan syndrome can produce other skeletal signs. Other major characteristics include abnormal curvature of the spine, as well as abnormal indentation, apart from the protrusion of the sternum. A person with Marfan syndrome may also show symptoms, like abnormal joint flexibility, flat feet, hammertoes, a high palate, stooped shoulders, malocclusions, unexplained stretch marks on the skin, and thin wrists. The person may also suffer from pain in the joints, bones, and muscles in some patients. Some people may also suffer from speech disorders, which are caused by symptomatic high palates and small jaws.


As it is, there is still no cure for Marfan syndrome. However, life expectancy has increased significantly over the last few decades, and clinical trials are underway for a promising new treatment. As it is, treatment of the syndrome involves, addressing each issue as it arises, and, in particular, considering preventive medication, even for young children.



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