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Because of the abnormalities of the patient's fibrillin, the walls of the aorta (the large blood vessel that carries blood away from the heart) are weaker than normal and tend to stretch and bulge out of shape.
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What is the medical term meaning hormonal disorder causing enlargement of the extremities?
Marfan's syndrome is the hormonal disorder that can cause enlargement of the extremities. Acromegaly is the medical term meaning enlargement of the extremities.
Does marfan syndrome affect the aorta?
Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is another. People with Marfan syndrome are typically very tall and thin, with very long fingers and toes (arachnodactyly). The fibrillin defect also affects the blood vessels, especially the large arteries, such as the aorta. Disordered fibrillin production causes these arteries to be weaker than normal, predisposing patients with Marfan syndrome to aortic dissections and rupture. This the major cause of death for patients with Marfan syndrome.
What is a Marfan Syndrome?
marfan syndrome is genetic disorder of connective tissue of the body. it cause a mutation of the gene that produces the protein fibrillin.
Can people with Marfan syndrome fly in an airplane?
Yes. A person with Marfan syndrome should have no problem flying in a commercial aircraft. Flights in an unpressurized aircraft are not recommended though, because the changes in altitude can cause a collapsed lung (pneumothorax), a particular risk for people with Marfan syndrome.
What does a diffective fibrillin protein cause?
A defective fibrillin protein can cause Marfan syndrome, a genetic disorder that affects the body's connective tissue. This can lead to a range of symptoms, including tall stature, long limbs, joint hypermobility, and heart problems such as aortic dilation and dissection.
How does pectus carinatum impact Marfan syndrome sufferers?
Although pectus carinatum does not cause breathing difficulties, it can cause embarassment about appearance.
Is marfan syndrome carried on the x or y chromosome or both?
Marfan syndrome is typically inherited in an autosomal dominant pattern, meaning that a mutation in a single copy of the gene is enough to cause the disorder. It is not specifically located on the X or Y chromosome.
Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
The FBNI gene encodes for a protein called fibrillin-1, mutations of which are associated with Marfan syndrome. However, there are other genes also implicated in Marfan syndrome. Therefore, diagnosing Marfan syndrome solely based on FBNI gene mutations may not capture the full spectrum of genetic variations that can cause the condition. A comprehensive genetic testing panel is usually needed for an accurate diagnosis.
What effect does Marfan's syndrome have on the aorta?
Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Most people with Marfan syndrome have problems associated with the heart and blood vessels. Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear or rupture, causing serious heart problems or sometimes sudden death. Sometimes, defects in heart valves can also cause problems. In some cases, certain valves may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not result in any symptoms, but larger ones may cause shortness of breath, fatigue, and palpitations (a very fast or irregular heart rate).
The inheritance of Marfan syndrome is an example of what?
Pleiotropy.
What may cause Marfan syndrome?
Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1. The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm). Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring. Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.
What is the genotype of an individual who has Marfan syndrome?
Marfan is an autosomal dominant disorder, which means that if someone inherits a defected gene from either parent, he will have Marfan syndrome. 75% of people with Marfan got it from their parents; the other 25% were the result of random mutations that happened in the first days or weeks of the pregnancy. This syndrome is caused by a mutation in the FBN1 gene on chromosome 15, which is necessary for structural and maintenance of elastic, connective tissue fibers. Everyone has this gene in them. There are over 600 different mutations on FBN1 that can cause Marfan. FBN1 mutations can also result in other disorders as well, like ectopia lentis and MASS Phenotype.
