Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The disease also affects other bodily structures—including the skeleton, lungs, eyes, heart and blood vessels—in less obvious ways. It is named for Antoine Marfan, the French pediatrician who first described it in 1896. Connective tissue is any type of biological tissue with an extensive extracellular matrix and often serves to support, bind together, and protect organs. ... A limb (from the Old English lim) is a jointed appendage of the human or animal body; a large or main branch of a tree; a representative, branch or member of a group or organization. ... A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. ... With regard to living things, a body is the integral physical material of an individual, and contrasts with soul, personality and behavior. ... In biology, the skeleton or skeletal system is the biological system providing support in living organisms. ... The lungs flank the heart and great vessels in the chest cavity. ... An eye is an organ that detects light. ... The heart and lungs (from an older edition of Grays Anatomy) The heart (Latin cor) is a hollow, muscular organ that pumps blood through the blood vessels by repeated, rhythmic contractions. ... The arterial system The blood vessels are part of the circulatory system and function to transport blood throughout the body. ... Bernard-Jean Antoine Marfan (June 20, 1858_1942) was a French pediatrician. ... Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that deals with the medical care of infants and children. ... 1896 was a leap year starting on Wednesday (see link for calendar). ...

Genetics

Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding of Marfan syndrome in humans. An autosomal dominant gene is an abnormal gene on one of the autosomal (non-sex determining) chromosomes. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Figure 1: Chromosome. ... Genetics (from the Greek genno γεννώ= give birth) is the science of genes, heredity, and the variation of organisms. ... Fibrillin is a protein, which is essential for the formation of elastic fibres found in connective tissue. ... Elasticity has meanings in two different fields: In physics and mechanical engineering, the theory of elasticity describes how a solid object moves and deforms in response to external stress. ... For the meaning of fiber in nutrition, see dietary fiber. ... Feral mouse A mouse is a mammal that belongs to one of numerous species of small rodents in the genus Mus and various related genera of the family Muridæ (Old World Mice). ...

Although genetic testing is available, a diagnosis is usually made solely on clinical findings. Most individuals with Marfan syndrome have another affected family member, but about 30% of cases are due to new (de novo) mutations and they are the first in their family. Genetic counseling is available for families who may be at risk for Marfan syndrome. Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... Genetic counseling generally refers to prenatal counseling done when a genetic condition is suspected in a pregnancy. ...

Estimates indicate that perhaps 1 in 10,000 people has Marfan syndrome. There is no cure, but effective treatment allows many people with the disorder to live normally. It affects all races and sexes equally.

Symptoms

The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is aortic aneurysm. In anatomy, the heart valves are valves in the heart that prevent blood from flowing the wrong way. ... In medicine, a persons pulse is the throbbing of their arteries as an effect of the heart beat. ... An aortic aneurysm is a general term for any swelling (dilatation or aneurysm) of the aorta, usually representing an underlying weakness in the wall of the aorta at that location. ...

Marfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptons include; abnormal joint flexibility, high palates, flat feet, stooped shoulders, and dislocation of the optic lens. Fingers of the human left hand The finger is any of the digits of the hand in humans and other species such as the great apes. ... Suborders Araneomorphae Mesothelae Mygalomorphae See the taxonomy section for families Spiders are invertebrate animals that produce silk, have eight legs and no wings. ... A teenager with pectus excavatum Pectus Excavatum is a congenital deformity that causes the sternum to be depressed into the chest causing a caved-in look. ... Pectus Carinatum Pectus carinatum, also called pigeon chest, is a deformity of the chest characterized by a protrusion of the sternum. ... Sternum or breastbone is a long, flat bone located in the center of the thorax (chest). ... The palate is the roof of the mouth in humans and vertebrate animals. ...

Nearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or cornea. Normal vision for a achromatopsic colour-blind person. ... Human eye cross-sectional view. ... The cornea is the curved, transparent layer that covers the front part of the eye and protects its inner structures. ...

Treatment

The heart conditions related to Marfan syndrome may not necessarily produce obvious symptoms. As a result, regular checkups by a cardiologist are needed to monitor cardiovascular health. Potential problems may be detected through echocardiography, which involves the use of ultrasound to study the heart valves and the aorta. Beta blockers have been used to control some of the complications such as aortic aneurysms. If the dilation of the aorta threatens to lead to rupture, a nickel-titanium stent may be inserted. Rupture of the aorta, or aortic dissection, is the most common cause of sudden death among Marfan syndrome sufferers. Cardiology is the branch of medicine dealing with disorders of the heart and blood vessels. ... The echocardiogram is an ultrasound of the heart. ... Medical ultrasonography is an ultrasound-based diagnostic imaging technique used to visualize internal organs, their size, structure and their pathological lesions. ... Beta blockers or beta-adrenergic blocking agents are a class of drugs used to treat a variety of cardiovascular conditions and some other diseases. ... An aneurysm (or aneurism) (from Greek ανευρυσμα, a dilatation) is a localized dilation or ballooning of a blood vessel. ... In medicine, a stent is an expandable wire mesh tube that is inserted into a hollow structure of the body to keep it open. ... Aortic dissection is a tear of the aorta (the largest artery of the body). ...

The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition.

Affected persons

Of famous people, it is believed to have affected Julius Caesar, Charles de Gaulle, Sergei Rachmaninoff, Mary Queen of Scots, Abraham Lincoln, violinist Niccolò Paganini, and possibly Charles Maurice de Talleyrand. A recent book suggested that the ancient Egyptian Pharaoh Amenhotep IV (Akhenaten) may also have had the condition. Osama bin Laden is also rumored to have Marfan syndrome. [1] [2] Bust of Julius Caesar Gaius Julius Caesar (Classical Latin: IMP·C·IVLIVS·CAESAR·DIVVS¹) (b. ... General Charles André Joseph Marie de Gaulle (   listen?) (November 22, 1890 – November 9, 1970), in France commonly referred to as le général de Gaulle, was a French military leader and statesman. ... Rachmaninoff, from a 1921 Victor advertisement Sergei Vasilievich Rachmaninoff (April 1, 1873 – March 28, 1943) was a Russian composer, pianist, and conductor. ... Mary I of Scotland; known as Mary, Queen of Scots Mary I of Scotland (Mary Stuart or Stewart) (December 8, 1542 – February 8, 1587), better known as Mary, Queen of Scots, was the ruler of Scotland from December 14, 1542 – July 24, 1567. ... Abraham Lincoln (February 12, 1809 – April 15, 1865), sometimes called Abe Lincoln and nicknamed Honest Abe, the Rail Splitter, and the Great Emancipator, was the 16th President of the United States (1861–1865), and the first president from the Republican Party. ... The violin is a stringed musical instrument that has four strings tuned a perfect fifth apart. ... Niccolò Paganini Niccolò Paganini, (Genoa, October 27, 1782 – May 27, 1840 in Nice) was a violinist, violist, guitarist and composer. ... Charles Maurice de Talleyrand Charles Maurice de Talleyrand-Périgord (February 2, 1754 - May 17, 1838) was a French diplomat. ... Map of Ancient Egypt Ancient Egypt as a general historical term broadly refers to the civilization of the Lower Nile Valley, between the First Cataract and the mouths of the Nile Delta, from circa 3300 BC until the conquest of Alexander the Great in 332 BC. As a civilization based... Pharaoh (פַּרְעֹה, Standard Hebrew ParÊ¿o, Tiberian Hebrew Parʿōh, Arabic فرعون) is a title used to refer to the kings (of godly status) in ancient Egypt. ... Bust of Pharaoh Akhenaten. ... Osama bin Laden Usāmah bin Muhammad bin `Awad bin Lādin (born March 10, 1957) (Arabic: ), commonly known as Osama bin Laden (Arabic: ), is usually considered to be the figurehead of al-Qaeda, a Sunni Islamist terrorist network that has been involved in attacks against civilians and military targets...

Volleyball star Flo Hyman, a known Marfan sufferer, and musical theater composer Jonathan Larson, believed to have been a Marfan sufferer, both died of aortic dissection. Another World actor Brent Collins was a dwarf with Marfan syndrome, who eventually grew in a short spurt late in life, which led to his death. Volleyball is a popular sport where two teams, separated by a high net, hit a ball back and forth over the net between the teams. ... Flora Jean Hyman (July 31, 1954 - January 24, 1986) was an American volleyball player and Olympic silver medalist. ... Musical theater (or theatre) is a form of theatre combining music, songs, dance, and spoken dialogue. ... A composer is a person who writes music. ... Jonathan Larson (February 4, 1960 - January 25, 1996) was a composer from New York City who created musicals including Rent and tick, tick. ... Another World (AW) was a Daytime Emmy-winning American soap opera which ran on the NBC television network (CTV in Canada) from May 4, 1964 to June 25, 1999. ... Brent Collins (1941 - January 6, 1988) was an American actor, best known for his role as Wallingford on Another World, which he played from 1984 until his death. ... Dwarfism is a condition in which a person, animal or plant is much below the ordinary size of the species. ...

Related disorders

• Bicuspid aortic valve with aortic vasodilation
• Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome
• Ehlers-Danlos Syndrome
• Familial aortic aneurysm
• Familial ectopia lentis (dislocated lens)
• Gigantism (or a Marfan body type)
• Homocystinuria
• Mitral valve prolapse
• Shprintzen-Goldberg Syndrome
• Stickler syndrome

A Bicuspid aortic valve is a normal aortic valve that has three cusps. ... The largest artery in the human body, the aorta originates from the left ventricle of the heart and brings oxygenated blood to all parts of the body in the systemic circulation. ... A vasodilator is a substance that causes blood vessels in the body to become wider by relaxing the smooth muscle in the vessel wall. ... Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the bodys ability to make connective tissues. ... An aortic aneurysm is a general term for any swelling (dilatation or aneurysm) of the aorta, usually representing an underlying weakness in the wall of the aorta at that location. ... Dislocation (joint dislocation) occurs when bones at a joint move from their normal position. ... Gigantism (from Greek gigas, gigantos giant) is a condition characterized by excessive height growth. ... In human biology and sport sciences, humans are classified according to three body types: People with an ectomorphic body type are naturally thin and lightly build with flat chest and poorly muscled limbs. ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Mitral valve prolapse (MVP) is a heart valve condition marked by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. ... Sticklers Syndrome is an inherited connective tissue disorder first studied and characterised by Dr. G.B. Stickler in 1965 whilst working at Mayo clinic. ...

External links

• National Marfan Foundation
• NIH Marfan syndrome page
• Open Directory Project: Marfan syndrome
• Marfan support
• Marfan Syndrome: Does Diet Play a Role?