Essay on marfan syndrome

Abstract We report a case of Marfan syndrome MFS in a South African patient, which is extraordinary because of the large constellation of clinical, radiological and vascular anomalies in a single patient.

marfan syndrome diagnosis

The Marfan Foundation advises patients with heart problems to wear a medical alert bracelet and to go straight to hospital if they feel any chest, back, or abdominal pain. He also had long and bony face, also disproportionately long fingers and hands.

marfan syndrome case report

This condition is inherited in an autosomal dominant manner. The internet search suggested that he may have MFS, and this was the primary reason for him to visit the hospital to find out if he indeed did have MFS.

Marfan syndrome in india

His total systemic score was 10 based on the revised Ghent nosology. Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. Marfan syndrome is an inherited disorder which alters the connective tissue in the body Frey R, Sims J, There are so many effects on the human body or mind caused by Marfan syndrome. It also plays an important role in helping the body grow and develop properly. Marfan Syndrome occurs when there is a mutation on chromosome 15, in a gene called FBN1, that tells the body how to produce Fibrillin Connective tissue, which is composed of many proteins, is found all over the body and is responsible for a number of things. Individuals with this disorder may live an average life span if they receive the proper treatment and diagnosis. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. Keywords: Connective tissue disease, marfan syndrome, radiological and vascular anomalies Introduction Marfan syndrome MFS is one of the most common inherited disorders of connective tissue [ 1 , 2 ]. The patient was normotensive with a sinus bradycardia of 60 beats per minute. The gene that carries Marfan syndrome is called FBN1. This may lead to leakage of the mitral valve or an irregular heart rhythm. It can cause sudden death.

If you have Marfan syndrome, you arent alone. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome.

Marfan syndrome treatment

Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. Transformer growth factor beta, another protein, is produced in large quantities due to the mutation Transformer growth factor beta, another protein, is produced in large quantities due to the mutation However, treatment can relieve symptoms and minimize or prevent possible complications. This is mainly due to fluid retention known as oedema which is as a result of low protein level in the blood. It can cause sudden death. It is a syndrome that is found among all races that affects males, more than females The diagnosis of MFS relies essentially on the fulfillment of clinical diagnostic criteria as outlined by the revised Ghent score [ 3 ]. It is an autosomal dominant condition with a reported incidence of 1 in to individuals. Fibrillin 1 basically affects the elasticity of connective tissue There is a wide range of clinical severity associated with MFS with classic ocular, cardiovascular and musculoskeletal abnormalities, while some patients demonstrate significant involvement of the lung, skin and central nervous system.

However, his conclusions were eventually proven wrong. For example; mosaicism Down syndrome will have less sign and symptoms because only few cells have extra copies of chromosome 21 and other cells are normal. Marfan Syndrome occurs when there is a mutation on chromosome 15, in a gene called FBN1, that tells the body how to produce Fibrillin Family members.

Marfan syndrome pdf

Different symptoms can be seen from the people with Marfan syndrome on their skin. Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. Marfan syndrome hit home since my father was diagnosed, as well as, my first cousin. This disease has no cure Ho , but when the symptoms are known to a person carrying the disease, a lifestyle can be developed which can allow the carrier to lead a fairly normal life Marfan syndrome is an …show more content… It is uniformly common in all countries around the globe. People with Marfan syndrome on their skeleton are usually very tall, thin, long arms and legs, and have loose or flexible joints because of the connective tissues problems. Fibrillin-1 is the protein that plays a role in the disorder. However, his conclusions were eventually proven wrong. About 1 in 5, people have Marfan syndrome, including men and women of all races and ethnic….

A parent with the condition has a 50 percent chance of passing it on to their child, but 25 percent of patients have no parent with the condition. Without these qualities in the connective tissue, it is difficult for the body to move and flex.

Marfan syndrome genetics

It is a syndrome that is found among all races that affects males, more than females Surgical repairs are often necessary. We can also see someones having Marfan syndrome on their blood vessels if they have short breath, easily to get fatigue, and have very fast or uneven heart rate. Marfan Syndrome occurs when there is a mutation on chromosome 15, in a gene called FBN1, that tells the body how to produce Fibrillin Since the causes are unclear, it is important that families know about these symptoms. They should avoid any sport where theres a lot of running, physical contact, muscle straining like basketball, football, and gymnastics since their connective tissues are weaker than normal. The patient was normotensive with a sinus bradycardia of 60 beats per minute. Abstract We report a case of Marfan syndrome MFS in a South African patient, which is extraordinary because of the large constellation of clinical, radiological and vascular anomalies in a single patient. As a result, people with Marfan and related disorders can live a normal lifespan if they are diagnosed and getting appropriate medical treatment. The doctor may not diagnose a child until they become a teenager.

The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease.

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Marfan syndrome: Symptoms, causes, and diagnosis