Marfan Syndrome Characteristics

What do Michael Phelps, Abraham Lincoln, Osama Bin Laden all have in common? They are all diagnosed with Marfan Syndrome which is a disorder of the connective tissues in the body. It is estimated that about 1 in every 3000-5000 people in the world is diagnosed with this disorder (Frey, 2005), that means about 140 000 000 to 233 333 333 people around the world’s population live with the struggles brought by Marfan syndrome. It may not seem like a big deal since so little of the world is diagnosed, but Marfan syndrome can cause some serious life-threatening symptoms. This report will explore the ins and outs of Marfan syndrome, from what it actually is to diagnostic and treatment techniques.

Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. 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.

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

“Abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers…” are some common finding in individuals with Marfan syndrome. (Stanford, 2017) These symptoms can develop at different points in the life span of those affected, and over time the features can worsen and have a negative effect on the body. “This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment.” (Marfan Foundation, 2014) Without the proper diagnosis, the disorder can have potentially life-threatening complications; therefore, the earlier the diagnosis the

These may be abnormalities of the chest, wobbly joints, unusual small neck, and bumpy-knees. Children that have this disease tend to carry a typical facial look that might contain a large head, wide mouth, bulging cheekbones, an abnormally petite nose, extensively spaced coated teeth, and extensively separated eyes with delicate corneal blurring and the liver and spleen might be a bit enlarged. Kids with Morquio syndrome display growth retardation from a very young age. The wrists, elbows, knees, hips and other big joints are unusually elastic, affecting total instability. The malformation of the chest causes a tension on the lungs and heart, which may cause respiratory

It is often known that the congenital heart defects can display little to no signs and symptoms. Congenital heart defects that are more severe can display signs and symptoms that can be life threatening. They are diagnosed during pregnancy or right after birth, during a physical assessment. One of the anatomical parts that could be affected by a congenital issue is the aorta. The aorta is considered the largest blood vessel in the body. It is the passage where the oxygen-rich blood leaves from the left side of the body the heart and carries oxygen throughout the body.

The likely inheritance of Marfans syndrome is autosomal dominant and vertically inherited trait. In an autosomal dominant inheritance pattern, a person only needs one copy of the dominant allele from one parent to display the disorder. If they do not have Marfans syndrome, they are not a carrier for the disease. A person who has Marfans has a 50% chance of passing that disease to its offspring, as long as their partner does not have Marfans. If a person with Marfans were to mate with another person with Marfans, the chance of transmission is much higher, at least 75%.

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport

“In most cases, the gene change for Marfan syndrome runs in the families, getting passed down to children from parents who have the disease.”...“Every kid born to a parent who has Marfan syndrome has a 50% chance of having it, too.” Whether you have a aunt, uncle, mom, or dad that has Marfan disease does not mean you would not get it. It is passed down through a persons genes. You can not get it growing up you get it before you are born.

The main symptom of MFS is the development of aortic aneurysms, most often in the root of the aorta, which in turn can lead to dissections of the aorta often resulting in death. (Franken et al. 2014) An aortic aneurysm is a swelling or bulging of a blood vessel wall and the greater it grow the thinner and weaker the wall becomes. If the wall becomes too weak it can burst or tear allowing blood to rush out which causes the inner and middle layers of the aorta to separate which is known as an aortic

This results from a mutation in a single gene called fibroblast growth factor 3. It occurs in every 15,000 to 40,000 births, but if both parents have the gene, one child in four will inherit two copies, which results in severe effects, usually stillbirth or death. One child will not inherit any copies and will not be affected. Two in four will inherit one copy and have dwarfism, the same characteristics as their parents.

Imagine never feeling full, no matter how much you eat. Imagine also being so hungry

In life, every living organism has billions of cells, that contain genetic material which makes the organism what we are. In every cell, there is a nucleus that controls the DNA in one’s body, creating the person they are; from hair color, sex, eye color, skin tone, etc.. In many cases the DNA and the nucleus are mutation and error free creating a normal human being with no genetic disorders. On the contrary, in other case there are mutations and errors in the DNA and nucleus creating many genetic disorders; for example marfan syndrome. Marfan syndrome is a hereditary disorder, from a mutation, resulting in uncommon long and thin body parts, and also optical and cardiovascular defects.

The current treatment is surgery and close watch on the heart. Many patients are waiting for a proper treatment, but that is yet to come. The methods of Diagnosis for Marfan syndrome are different than the current state of the treatment. The current, effective treatment for Marfan’s is called Ghent nosology. Ghent nosology is appropriately described by J.S. Dean from the European Journal of Human Genetics, saying “In the Ghent nosology, clinical features are assessed within the seven body ‘systems’, to determine whether that system provides a major criterion, or only system involvement. A diagnosis of Marfan syndrome requires a major criterion in two systems and involvement of a third” (pg. 726). The most common areas Marfan syndrome affects is the cardiovascular, ocular, skeletal, and respiratory systems. The cardiovascular assessment part of Ghent nosology requires measurement of the aortic diameter and possibly an EKG. The ocular part of Ghent nosology can be found easily if the person has or needs glasses or has had recurrent eye problems. The skeletal test of Ghent nosology is measured through X-rays, MRI’s, and comparisons of normal values based on height and weight. Issues with the respiratory system can also be found through X-Rays and MRI’s. One other way to diagnose Marfan’s is through genetic testing. Genetic testing is the quickest way to diagnosis Marfan’s but not the most accurate, as some

There is no cure for Marfan Syndrome but people with Marfan Syndrome can live long fulfilling lives. Here are many ways that people live day to day with this disease: