Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygenrich blood to the body. A problem with the fibrillin gene causes marfan syndrome. However, the defect is specific to each family, and not everyone experiences the same characteristics of marfan syndrome. A case study maysah faisal almulla final year medical student royal college of surgeons in ireland bahrain.
Marfan syndrome, caused by mutations in the fibrillin1 gene, was the first established genetic entity ever reported in the field of syndromic aortic aneurysm disease and has gained the status of a paradigm disorder for the study of clinical, molecular, pathophysiological, and therapeutic studies of these disorders. Objectives the purpose of this study was to identify clinical parameters associated with type b aortic dissection and to develop a risk model to predict type b aortic dissection in patients with marfan syndrome. Advances in medical care have made it possible for people with marfan syndrome to live a normal lifespan if they are diagnosed and treated properly. Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. This presentation describes the diseases pathogenesis, characteristics, diagnosis and tre slideshare uses cookies to. Affects men, women and children all races and ethnic backgrounds at least 1 in every 5,000 people in theunited states have the disorder 3. A genetic disorder principally affecting the connective tissues of the body, manifested in varying degrees by excessive bone elongation and joint. The genetic basis of marfan syndrome is mutations in the gene encoding fibrillin1 fbn1 at chromosomal locus 15q21. It gets its name from two european dermatologists, edvard ehlers and henrialexandre danlos. A free powerpoint ppt presentation displayed as a flash slide show on id. Marfan syndrome is put into the category affecting the muscle and bone, also affects the skeleton, lungs, eyes, heart, and blood vessels. Elective root replacement in marfan syndrome has improved life expectancy in affected patients.
Marfan syndrome diagnosed 1medical and family histories doctor will ask about medical history of patient and familys medical history. Therefore, they are encouraged to adapt health measures that protect them from marfan features that can worsen and from medical conditions that are simply part of the aging process. Hilhorsthofstee, md, clinical geneticist, leiden university medical center download abstract download powerpoint. The marfan foundation needtoknow information for the teacher marfan syndrome is a lifethreatening genetic disorder that causes some physical problems that can interfere with a students ability to perform in the classroom. A parent who has marfan syndrome has a fifty percent chance of passing the genetic disorder to his or her child. Mar 08, 2019 marfan syndrome mfs is an inherited connective tissue disorder, noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability, as well as pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems, some of which are life threatening. Marfan syndrome is a connective tissue disorder that can affect many organ systems. Interventional treatment methods in patients with marfan syndrome. Marfan syndrome is an autosomal dominant heritable connective tissue disorder which involves primarily the skeletal, ocular and cardiovascular system. This gene encodes fibrillin1, a glycoprotein that is the. The most serious effects include those on the cardiovascular system, particularly the heart valves and aorta. Marfan syndrome is a variable, autosomal dominant connective tissue disorder, affecting mainly the cardiovascular system, eyes, and skeleton.
This is the inheritance pattern for marfan syndrome. Prevalence, incidence, and age at diagnosis in marfan syndrome. Methods patients with the diagnosis of marfan syndrome. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from. Needtoknow information for the teacher the marfan foundation. Children affected by the marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin1. The major heart abnormality is the weakening of the root of the aorta. Marfan syndrome is a genetic disorder of the bodys connective tissue, which may affect the heart, eyes, skeleton and lungs. Marfan syndrome authorstream presentation go premium. The most common symptom of marfans syndrome is myopia, and 60% of the individuals with marfans syndrome have ectopia lentis. Dna diagnostic services for fbn1 testing for mfs and related clinical entities tgfbr1, tgfbr2 are available. American journal of respiratory and critical care medicine.
The heart abnormalities associated with the disorder are the most life threatening. Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that todays audiences expect. Marfan syndrome mfs, a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is. There are many symptoms in people with marfan syndrome.
Marfan syndrome is an inherited disease and can affect men and. Marfan syndrome is an autosomal dominant multisystem connective tissue disorder usually associated with mutation in fibrillin protein with a reported incidence of one in 9800. Marfans syndrome synonyms, marfans syndrome pronunciation, marfans syndrome translation, english dictionary definition of marfans syndrome. It is a relatively common condition, with approximately 1 in 5000. It is associated with a high prevalence of obstructive sleep apnea osa. Marfan syndrome lecture complex carbohydrate research center. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. The risk for type b aortic dissection in marfan syndrome.
Will assistance be required as the child grows older if they will need assistance is depened on how severe there case is are there any treatments or cures. Marfan syndrome is a disorder of connective tissue. Parents who do not have the disorder have a 1 in 10,000 chance of having a child with marfan syndrome. Type i or classic marfan syndrome involves mutation in fbn1 gene, located on chromosome 15, which encodes for microfibrillar glycoprotein fibrillin 1. Health supervision for children with marfan syndrome.
People with marfan tend to be tall and thin, with long arms, legs, fingers and toes. Marfan syndrome is the property of its rightful owner. The disease affects the connective tissues therefore a person who has marfan syndrome is characterized as having unusually long limbs. This document consists of two brochures, the first explaining the marfan syndrome and a second providing guidelines for physical education and activity for people who have this syndrome are provided.
Our diagnostic tool, marfan dx, offers the latest zscore calculators for adults and children, nomograms, and a systemic score. Analyzes the fact that marfan s syndrome can be traced through family genes. Hellp syndrome hemolysis, elevated liver enzyme, low plt in pre. Marfan syndrome lecture complex carbohydrate research. Anesthetic management of a patient with marfan syndrome. Marfan syndrome definition of marfan syndrome by the free. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Find powerpoint presentations and slides using the power of, find free presentations research about marfan syndrome ppt. People can inherit marfan syndrome, meaning that they get the mutation from a parent who has the disorder.
The most common symptom of marfan s syndrome is myopia, and 60% of the individuals with marfan s syndrome have ectopia lentis. Fact sheet and physical education and activity guidelines. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the d. Cove point contains comprehensive information on all congenital heart defects, including atrial septal defect asd, ventricular septal defect vsd, hypoplastic left heart syndrome hlhs, and tetralogy of fallot tof. The type of inheritance for marfan syndrome is autosomal dominant. Marfan syndrome is a disorder that affects connective tissue. Individuals who have marfans syndrome are also at higher risk of retinal detachment, glaucoma and early cataract formation. Marfans syndrome congenital heart disease cove point. View and download powerpoint presentations on marfan s syndrome ppt. Marfans syndrome is a disorder that affects the connective tissue, so its not as strong as it would be. Marfan syndrome is a genetic disorder in which effects the heart and blood vessels.
Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Marfan syndrome is a heritable, multisystem disorder of connective tissue with extensive clinical variability. There is a broad range of clinical severity associated with mfs and related disorders, ranging from isolated features of mfs to neonatal. Marfan syndrome mfs is an inherited connective tissue disorder, noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability, as well as pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems, some of which are life threatening.
Physical activities guidelines the marfan foundation. Ppt marfan syndrome powerpoint presentation free to download id. Marfan syndrome is a connective tissue disorder which causes defects of aorta and heart values. Paraseptal emphysema associated with apical blebs may be seen among patients with marfan syndrome.
Marfan syndrome traits vary from person to person, even in the same family. Marfans syndrome definition of marfans syndrome by the free. Marfans syndrome wake county public school system ppt. Knowing the signs of marfan syndrome, getting a proper diagnosis, and receiv ing the necessary treatment can enable people with marfan syndrome to live a long and full life.
Background aortic dissections involving the descending aorta are a major clinical problem in patients with marfan syndrome. Marfan syndrome synonyms, marfan syndrome pronunciation, marfan syndrome translation, english dictionary definition of marfan syndrome. Csanz guidelines for the diagnosis and management of marfan syndrome page 3 2. Marfan syndrome is a rare genetic disorder of the connective tissue. With an early diagnosis, treatment, and lifestyle adaptations, many people with marfan syndrome can now expect to live a normal life span. Introduction marfan syndrome autosomal dominant inherited disorder of connective tissue, characterised by loss of elastic tissue, affects numerous body systems, including the musculoskeletal, cardiovascular, neurological, and respiratory systems, and the skin and eyes. Marfan syndrome is a connectivetissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene fbn1. Marfan syndrome mfs is a genetic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart. The molecular genetics of marfan syndrome and related. The clinical manifestations of marfans syndrome become more evident with age. This syndrome is a result of miss folding in glycol protein named fibrillin which is responsible for formation of elastic fibers in connective tissues helps in transforming growth factors.
Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded for by the fbn1 gene. The brochure on factual information about marfan syndrome. Winner of the standing ovation award for best powerpoint templates. Marfan syndrome is caused by mutations in the ecm protein, fibrillin1 the syndrome is manifested by defects in the skeletal, cardiovascular and ocular systems estimated incidence of 23 per 10,000. Our community of experts estimates that nearly half of the people who have marfan. The incidence is approximately 1 in 9800, and around 26% of cases have no family history, the condition resulting from a new mutation. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. The most serious complications of marfan syndrome involve the heart and blood vessels. Surgical management of aortic root disease in marfan. This is the case in about 3 out of 4 people with marfan syndrome. Marfan syndrome is a serious condition, and some complications are potentially lifethreatening.
Marfan syndrome mfs is an autosomal dominant connective tissue disorder caused by mutations of the gene fbn1 on chromosome 15q21, which is responsible for the production of fibrillin1, a complex glycoprotein that is a major constituent of various connective tissue types dietz et al. Some people who have the condition have many traits, while others have few. Marfan syndrome is a genetic disorder that can be inherited or passed onto generations. Marfan s syndrome is a hereditary disorder characterized by a defect in connective tissue, resulting in tissue laxity. Marfan syndrome is a lifethreatening genetic disorder of the bodys connective tissue. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Our aim was to study prevalence, incidence, and age at. Marfan syndrome is a genetic disorder with considerable morbidity and mortality. The clinical manifestations of marfan s syndrome become more evident with age. Prenatal diagnosis is available where a familial mutation is known, but. Ppt marfan powerpoint presentation free to download. Ppt marfan syndrome powerpoint presentation free to. Marfan syndrome mfs is a disease in which connective tissue becomes weak secondary to fibrillin1 mutations, resulting in aortic dilatation, aneurysm formation, aortic dissection.
Mar 25, 2016 marfan syndrome diagnosed 1medical and family histories doctor will ask about medical history of patient and familys medical history. This syndrome might affect eyes, lungs, skeleton, etc. Your marfan foundation teen council came up with the idea for this resource just for you. Explains the symptoms of the disease and how it affects people, especially families. Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in tgf br1 or 2. Dna diagnostic services for fbn1 testing for mfs and related clinical entities. Cardiovascular manifestations and exercise implications. Marfan syndrome is an autosomal dominant, multisystemic connective tissue disease, associated with a mutation in fibrillin, and occasionally a mutation in. Find powerpoint presentations and slides using the power of, find free presentations research about marfan s syndrome ppt. See more ideas about powerpoint template free, templates and presentation templates.
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