Syndrome of Marfan

Definition

The syndrome of Marfan is a genetic Maladie being transmitted on the mode dominating of the conjunctive Tissu, reaching the whole of the bodies of the human body with very variable degrees in its clinical demonstrations. The most touched bodies are: the eye, the Skeleton and the cardiovascular System.

History

It owes its name with the Pédiatre French Antoine Marfan, which described it in 1896. The French professor made a first publication starting from a Dolichosténomélie in a 5 year old child in 1896. Thus the Dolichosténomélie from now on will be called syndrome of Marfan.

Epidemiology

The syndrome of Marfan is a rare genetic disease i.e. it touches only one person on: 10000. It is a dominant autosomic disease in general hereditary. But 15 % of the cases are due to spontaneous changes (nonhereditary). At present a child on two risk to be reached, whatever its sex, if one of his/her 2 parents is reached. There is no difference between the sexes. In the nonfamily forms, a advanced paternal age seems to be a not very marked risk factor.

The leading cause of Morbidity and Mortalité is in connection with the attack of the vessels: dilation of the aorta, dissection of the aorta, prolapsus of the mitral valve with or without mitral insufficiency, prolapsus of the tricuspide, dilation of the pulmonary artery.

With a correct assumption of responsibility, the life expectancy of these patients does not differ from the general population.

Physiopathology

The syndrome of Marfan is an affection of the conjunctive fabric which plays a paramount role in the organization. It is a disease affecting all the body.

vessels

The syndrome of Marfan tackles the media resistant at the natural state weakens following a fragmentation of elastic fibers and/or a death of smooth muscular cells. Myopia is the ocular demonstration most constant. The ectopia of the crystalline lens is a characteristic of the disease and reached 60% of the patients. There exists also an increased risk of Detachment of retina, Glaucome, and of early cataract.

The attack of the skeleton is characterized by an exaggerated growth of the members and a hyperlaxity of the articulations. The members are disproportionate compared to the trunk (dolichostenomelie). The coasts push the sternum ahead (Pectus carinatum) or behind (Pectus excavatum). The scoliosis is usual of average to severe.

The Heart

The disease affects the cardiac valves in particular the mitral one and the aortic one.

Etiology

The syndrome of Marfan is in connection with a change of the gene fibrilline-1 (FBN1) appearing sometimes as of the birth with obvious signs and a fast progression of the disease until a single demonstration of the disease. The gene whose change causes the disease is located on the chromosome 15 which codes the FBN1. Thus an anomaly of conjunctive fabric made up of collagen, is due to an anomaly of the microfibrils taking part in the coherence of conjunctive fabric. The consequences resulting from this anomaly result in a deterioration of the Media.

Symptoms

The syndrome of Marfan appears with degrees of different severities according to the individuals. Thus here is a nonexhaustive list of signs:

abnormal growth of the bones and thinness
ectopia of the crystalline lens
Aneurism and aortic dissection
Prolapsus of the mitral valve
Of the spontaneous pneumothoraxes
very frequent Presence of scratches.

Diagnosis

The diagnosis includes the intervention of a certain number of experts, in particular the orthopedist, the ophtalmologist, the cardiologist as well as the general doctor. The examination includes/understands inter alia: The anamnèse, search for physical and functional signs and genetic analysis

Treatment

Medical care

Blocking beta deaden the impact of systolic flow on the media weakened of the aorta.

Surgical treatment

After consultation in a cardiovascular department of surgery, one proposes to the patient the installation of an aortic prosthesis when the diameter of the aorta reaches 5 centimetres. under these conditions, the results will be excellent. The operation is well supported and improves the life expectancy of the patients reached of Marfan. It is necessary that the diagnosis was posed in an early way. However it is sometimes difficult for the general practitioner, because it followed a university education restricted on this disease.

Gene one Chromosome 15. FBN1 encodes has protein called Fibrillin, which is essential for the formation off elastic fibers found in connective tissue. Marfan' S Syndrome is associated with incomplete penetrance, therefore not all let us persons carrying the change develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which edge cuts severe consequences one support and stability. With related disease has been found in mice, and it is hoped that the study off foam fibrillin synthesis and secretion, and connective tissue formation, will further our understanding off Marfan syndrome in humans. Although Genetic testing is available, has diagnosis is usually made solely one clinical findings. Most individuals with Marfan syndrome cuts off another affected family member, goal butt 30% boxes are due to new changes and they are the first in their family. Genetic counseling is available for families who may Be At risk for Marfan syndrome. Estimates indicate that perhaps 1 in 10,000 people has Marfan syndrome. There is No cleans, goal treatment effective allows many people with the disorder to live normally. It affects all races and both sexes equally. -->

valves that control the flow off blood through the heart. This may produce shortness off breath, year irregular Pulsates, and undue tiredness. Another complication is Aortic aneurysm.

Marfan normal syndrome sufferers may grow to larger than height, and typically cuts long, slender limbs and Finger S. Due to the Spider there appearance off the fingers, Marfan syndrome has also been known ace arachnodactyly . In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature off the spine (Scoliosis) has common problem, ace is abnormal indentation (Pectus excavatum) gold protrusion (Pectus carinatum) off the Sternum. Thesis symptoms may in turn causes unusual presses one the heart and lungs. Other let us symptons include; abnormal joint flexibility, high Palates, flat feet, stooped shoulders, and dislocation off the optic lens.

Nearsightedness gold Myopia has common condition associated with Marfan syndrome. In addition, the weakening off connective tissue often causes detachment off the Retina and/or Cornea. -->

Echocardiography, which involves the uses off ultrasound to study the heart valves and the aorta. Beta blocker S cuts been used to control summons off the complications such ace aortic Aneurysm S. If the expansion off the aorta threatens to lead to rupture, has nickel-titanium Stent may Be inserted. Rupture off the aorta, but Aortic dissection, is the most common causes off sudden death among Marfan syndrome sufferers.

The skeletal and ocular demonstrations off Marfan syndrome edge also Be serious, although not life-threatening. Thesis symptoms are usually treated in the typical manner for the appropriate condition. -->

Famous patients

Among the celebrities, one supposes that Jules César, Charles de Gaulle, Sergueï Vassilievitch Rachmaninov, the Queen Marie Ire of Scotland, Abraham Lincoln, the Violon ist Niccolò Paganini, the type-setter of Rent, Jonathan Larson, Joey Ramone (leader of the " group; The Ramones") and perhaps Charles Maurice de Talleyrand was affected. A recent book launches the assumption that the Egyptian Pharaon Amenhotep IV Akhénaton was perhaps also reached by it. One also suspects the disease at Usama Bin Laden.

Volley ball star Flo Hyman, has known Marfan sufferer, and Musical theater Composer Jonathan Larson, believed to cuts been has Marfan sufferer, both died off aortic dissection. Another World actor Brent Collins has dwarf with Marfan syndrome, who eventually grew in has shorts spurt late in life, which led to his death. -->

Sources

Site in French of information on the orphan rare diseases and drugs
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 154700 * Harry C Dietz, Marfan Syndrome in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005 * De Paepe has, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE (1996) Revised diagnosis criteria for the Marfan syndrome. Am J Med Broom 62:417 - 26

Marfan

External bonds

National Marfan Foundation
NIH Marfan syndrome page
Open Directory Project: Marfan syndrome
Marfan support
French Forum on Pectus Excavatum and Carinatum

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