MARFAN SYNDROME

Disease

Brief Summary

Marfan syndrome is a genetic disorder that mostly affects the heart, eyes, skeleton and blood vessels. It targets the connective tissues which connect and support different organs and structures in the body.

Source

Image:

Person affected with Marfan Syndrome

Frequency

Worldwide, the Marfan syndrome incidence is about 1 in 5,000.

Inheritance

In around ¾ or 75% of observed cases, Marfan syndrome is inherited from 1 parent. The syndrome is autosomal dominan. Variable expression in Marfan syndrome is the rule, but complete nonpenetrance has not been definitively documented.

History of Disease

The first Marfan Syndrome was observed in a little with very long and slender limbs and fingers. It was diagnosed by Dr. Antoine Marfan in 1896, and was then later on named after him.

Brief Summary

History of Disease

Pathogenesis

Marfan Syndrome is a genetic disorder caused by mutations in the fibrilin (FBN1) gene which is located on chromosome 15q21. This genetic disorder can be inherited from generations to generations in an autosomal dominant manner.

Source

Image:

Gene responsible for Marfan syndrome

Symptoms

Tall and slender build

Disproportionately long arms, legs and fingers

An abnormally curved spine

A breastbone that protrudes outward or dips inward

A high, arched palate and crowded teeth

Flat feet

Heart murmurs

Extreme nearsightedness

Marfan syndrome is a variable expression type of genetic disorder which means that symptoms may vary from each individual depending on how severe the condition was. The following lists above are the observable symptoms of a person with Marfan Syndrome.

Social Concerns

In spite of normal intellectual and gross motor growth, patients with Marfan syndrome often do not function to the best of their capacity due to physical limitations: short vision and loose joints, as well as easy exhaustion, restricting physical activity and choice of job. In fact, fibrillin-1 deficiency causing Marfan syndrome plays a role in easy fatigue, as it is a component of tendons, ligaments and muscles.

Furthermore, psychological findings indicate that children with Marfan syndrome prefer to keep their problems to themselves, contributing to isolation, physical symptoms, depression and anxiety. In terms of its impact on daily life, schooling and job prospects, patients are thus greatly burdened by their illness. They experience higher depression rates than those of the same generation.

Treatment

Diagnosis

Many doctors claim that Marfan Syndrome can be challenging to diagnose since there are several tissue disorders that have similar signs and symptoms as to the disease. In short term, a person may express some of the symptoms for Marfan syndrome but is not enough to be diagnosed with the disorder. The following are the recommended tests to diagnose Marfan Syndrome:

Echocardiogram

Echocardiogram is a heart test which uses sound waves to capture real-time images of the heart in motion. It is used to check the condition of the heart valves and the size of the aorta. Other options for the heart test are computerized tomography or the CT scan and the magnetic resonance imaging or the MRI scan.

Genetic tests

Genetic testing is used to determine which gene is mutated, for in this case, genetic testing could confirm the diagnosis that an individual has Marfan syndrome.

Amniocentesis is the technique used to diagnose fetal defects in the early second trimester of pregnancy. In this test, amniotic fluid is collected from the pregnant woman’s womb through a needle and syringe.

Persons’ with Marfan syndrome are said to have shorter lifespan however individuals that are early diagnosed and were given proper treatment for the Marfan syndrome, are said to have a lifespan similar to a normal person.

Marfan syndrome is incurable, however there are several treatments provided to treat and cure the complications brought by the disease.

Aortic repair. Doctors may prescribe surgery to replace a portion of your aorta with a tube made of synthetic material if your aorta's diameter is about 2 inches (45 to 50 millimeters) or if it enlarges rapidly. This will help avoid a rupture that is life threatening. You will also need to repair your aortic valve..
Scoliosis treatment. Consulting a spine expert is necessary, treatment may include bracing of the spine and surgery.
Breastbone corrections. To fix the appearance of a sunken or protruding breastbone, surgical alternatives are available. As these procedures are mostly deemed to be for cosmetic reasons, the expenses will not be protected by your policies.
Eye surgeries. Surgical treatment is typically effective if parts of your retina have broken or come loose from the back of your eye. Your clouded lens can be replaced by an artificial lens if you have cataracts.
Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture.

Source

Image:

Physical therapy to manage the symptoms of Marfan syndrome

Clinical Trials

Title:

Trial of Beta Blocker Therapy Versus Angiotensin II Receptor Blocker Therapy in Individuals With Marfan Syndrome.

Intervention:

Drug - Losartan Potassium

Drug - Atenolol

Phase:

Phase 3

Phase:

Clinical Trials

Title:

Trial of Beta Blocker Therapy Versus Angiotensin II Receptor Blocker Therapy in Individuals With Marfan Syndrome.

Intervention:

Drug - Losartan Potassium

Drug - Atenolol

Phase:

Phase 3

Procedure:

This 3-year study will enroll individuals with Marfan syndrome. Participants will be randomly assigned to receive either losartan or atenolol on a daily basis. All participants will initially receive a low dose of their assigned medication. This dose will be gradually increased every 3 to 4 weeks until the maximum tolerated dose is reached. A continuous electrocardiogram (ECG) that monitors heart rate and activity in 24-hour intervals will be used to determine the proper dose increase for each participant. Participants will then receive the maximum tolerated dose for the remainder of the study. Study visits will occur at baseline and Months 6, 12, 24, and 36. Each study visit will include a physical examination, a medical history review, an ECG, an echocardiogram, and questionnaires. Additionally, at the baseline study visit blood will be collected for laboratory testing.

Goal:

The purpose of this study is to compare the effectiveness of losartan versus atenolol at slowing aortic root growth in individuals with Marfan syndrome.

Further details at:

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00429364

Clinical Trials

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