Marfan Syndrome: Genetic Disorder

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

(Giarelli, Bernhardt, & Pyeritz, 2010, Lashley, 2007 ,Canadas et al., 2010). The mutant gene is found on an autosome consequently, the syndrome can affect males and females equally. While, only one copy of the mutant gene is necessary for the disorder to be present (Lashley, 2007). Fibrillin-1 is a large gene, made of complex glycoproteins that are responsible for the flexibility and strength of connective tissue (Giarelli, Bernhardt, & Pyeritz, 2010 & Gonzales, 2009). Fibrillin-1(FBN1) is most abundant in the cardiac, ocular and, skeletal system throughout the body. This glycoprotein can also be found in elastic and non- elastic tissues and is a chief component of microfibrils. Microfibrils maintain cellular bonds in the extracellular matrix and form the framework of elastic fibers in the aorta and ligaments of the musculoskeletal system and multiple organ systems (Keane & Pyeritz, 2008). These microfibrils consist of the structural parts that support the ligaments in the ocular lens and have a load-bearing role in elastic arteries (Chen & Buehler, 2010). As a result of the mutation in the FBN1 gene abnormalities occur in the microfibrils and can cause faulty connective tissue. The mutations were thought to create weakness of the aortic wall, lens dislocation, joint hyperlaxity and, widening

Joey Jones, a 14-year-old African American child who just seems too tall, is referred to genetic clinic. A physical exam revealed the following parameters and features:

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

Apart from this, Marfan syndrome has several symptoms. However, the most prominent indicators affect the skeletal, cardiac, and optical systems. The entire fibrous connective can also be affected (4). Other signs include extreme nearsightedness, an abnormally curved spine, flat feet, excessively limbs, and extraordinary and overcrowded teeth. The central cause of the condition is a deficiency in the gene that enables the human body to produce the fibrillin protein, which provides the connective tissue the strength and power to support the body organ (4). Along with this, an individual inherits the abnormal from parents who had the disorder, and the condition can occur in men and women in all races as well as

“Marfan syndrome is a genetic disorder that affects the body’s connective tissue.” (Marfan Foundation, 2014) Connective tissue serves a crucial role in the functions of the human body. More specifically, connective tissue is what holds together the cells, organs, and tissue in the human body. Due to its structural significance, it also helps the body to develop and grow properly. “Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1.” (Marfan Foundation, 2014) Marfan syndrome stems from a mutation within the gene that codes for fibrillin-1. This mutation increases the production of a protein called “…transforming growth factor beta…” In response to the increase of this protein, problems in connective tissues result, therefore causing Marfan syndrome. (Marfan Foundation, 2014)

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue, affecting mostly the skeletal, ocular and cardiovascular systems, caused by mutations in the FBN1 gene. (Fernandes et al 2016) It was first described just about 100 years ago and was one of the first conditions classified as a heritable disorder of the connective tissue. MFS lies at one end of a phenotypic spectrum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. (Pyeritz 2000) One in four cases of MFS occur through due to a random mutation the rest are inherited. (Lima et al 2010) Marfan syndrome affects anywhere from 1–2/10,000 individuals and has a large amount of variation in its symptoms and severity. The incredible variability of Marfan syndrome and the lack of identifiable phenotype-genotype correlations point to the occurrence of modifier genes. (Fernandes et al 2016) According to Groth et al. the prevalence of MFS could increase because during their 38 year study they saw a clear rise in prevalence. The age of diagnosis for MFS can range throughout an entire lifetime however the median age of diagnosis is 19 years old. It has the potential to be a life threatening

There are many genetic disorders in this world. Some are fatal, and some are not even noticeable to the everyday person. One of these genetic disorders is named Marfan Syndrome. This paper will tell you the causes, symptoms, current treatment, prognosis, and current research of Marfan Syndrome.

Marfan’s syndrome is a rare hereditary disorder of the body’s connective tissue. The phenotypic traits include being tall, abnormally long stretched limbs and in the most severe cases the aorta can be prone to rupture and retinal detachment can occur [1]. Seventy five percent of cases for this multisystem disorder are genetic and inherited in an autosomal dominant fashion (a child can inherit it from just one parent): 25% are sporadic where neither parent has the syndrome [2]. Its prevalence is 1/5000 and of these affected individuals each has a 50% chance of passing on the mutated gene to their offspring [3]. Marfan’s syndrome is caused by mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1 [4]. Fibrillin is a large glycoprotein

Marfan syndrome is a genetic condition that affects the human body’s connective tissues, or the muscular system (Braverman 2017). The symptoms of this syndrome can vary from being moderate to life threatening. Some symptoms of Marfan Syndrome are having abnormally long fingers, legs, and arms, that are disproportionate with a person’s height (Adamec 2005). Having joints that move past the limit of a regular person is another symptom. Someone with Marfan Syndrome may also have scoliosis, which is the rounding or arch of the spine. Another trait of Marfan syndrome is pectus excavatum or sunken chest and pectus carinatum, which is the protrusion of the chest (Adamec 2005). The life threatening symptoms of this genetic disorder involve the heart. A person with Marfan syndrome can have leakage of the heart valves or weakness in the aorta. These symptoms can result in heart disease or aneurysm, which can make death early (Turkington 2004).

Marfan syndrome is one of the most common inherited disorders in the human body. It is an autosomal dominant condition that is caused by the mutation in the FBN 1 gene. There are many different symptoms of Marfan syndrome, some include: nearsightedness, overgrowth in the rib bones, and unusually long arms and legs. Marfan syndrome can be inherited when at least one parent has the Marfan syndrome genetic disorder. Their child has a one out of two chance of having Marfan syndrome. Treatment for Marfan syndrome can be relatively easy. Medication and glasses can be used to treat nearsightedness. Treatment, however, can also be hard. Surgery will be required for skeletal problems in the body.

As an adolescent I noticed that I had longer fingers than normal and shortness of breath. After going to the doctors I was diagnosed with Marfan Syndrome. Marfan Syndrome is a genetic disorder that affects the connective tissue due to a defect in the gene that creates fibrillin. Fibrillin is a primary protein in connective tissue. Marfan Syndrome although present at birth is usually not diagnosed until adolescence, and I was unaware of my family history with the disease as I did not know my father. The doctor discovered that my shortness of breath was due to a weak aorta and leaking heart valve. As there is no cure for Marfan Syndrome my body is unable to naturally maintain homeostasis. I was put on beta blockers

Marfan Syndrome is caused by a mutation in the gene that determines the structure of Fibrillin - 1. Fibrillin - 1 is a protein that plays

Marfan Syndrome is an autosomal dominant disorder mainly caused by defects in the gene FBN1 that codes for the protein fibrillin. Approximately 1 in 5,000 people are affected. Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. There is a high degree of variability of this disorder, sometimes presenting itself at birth or later in childhood or adulthood. On one end of the spectrum is severe neonatal presentation with rapidly progressive disease, while on the other end isolated phenotypic features may be the only presenting signs. Life expectancy, with proper management, approximates to that of the general population.