... is a genetic disorder affecting the bodys connective tissues, which help provide strength and flexibility to many parts of the body, including muscles, blood vessels, heart valves, and bones. The two main features of Marfan syndrome affect the heart and eyes. Specifically, the main artery carrying blood away from the heart (aorta) can widen over time (aortic aneurysm). This widening can cause the vessel to tear (aortic dissection). People with Marfan syndrome can also have dislocation of the lenses in their eyes (ectopia lentis), which can cause vision problems. Other features of Marfan syndrome include a long narrow face, a curved spine (scoliosis), a sunken or protruding chest, flat feet, flexible joints, and crowded teeth. People with Marfan syndrome may also have a total length of both arms (wingspan) that is longer than their height.. Marfan syndrome is caused by a mutation (change) in the FBN1 gene. This gene acts as an instruction for the body to make fibrillin-1, a ...
By my calculations, there are 9,000 people in the UK who are unaware that they have Marfan Syndrome - if left undetected up to 1/3 of whom may not live beyond adulthood.". Dr. Anne Child, Medical Director of The Marfan TrustThe official figures show that 1:5,000 people potentially have Marfan Syndrome, yet through the incredible work of The Marfan Trust, led by their Medical Director Dr. Anne Childs, it has become apparent that these statistics are inaccurate.Dr Anne Child St. Georges Hospital. The actual figure is believed to be 1:3,000 people, which means that in the UK alone, there are potentially 9,000 who are unaware that they have Marfan Syndrome.. Although Marfan Syndrome is hereditary, 25% of new cases do NOT have any immediate family connections - and it is these people who are most at risk.. This is the exact situation Lucy Morris was in and why it took so long to diagnose her. There will be other girls and boys (as well as adults) throughout the UK in exactly the same situation as ...
Marfan syndrome. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T116671/Marfan-syndrome . Updated May 26, 2016. Accessed September 28, 2016. Moura B, Tubach F, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine. 2006 Sep 14. Antibiotic prophylaxis for heart patients. Mouth Healthy-American Dental Association website. Available at: http://www.mouthhealthy.org/en/az-topics/a/premedication-or-antibiotics. Updated June 2016. Accessed June 16, 2016.. Travis J. Medicine. Old drug, new hope for Marfan syndrome. Science. 2006 Apr 7;312(5770):36-37.. What is Marfan syndrome? National Marfan Foundation website. Available at: http://www.marfan.org/about/marfan. Accessed June 16, 2015.. ...
Marfan syndrome is a condition where connective tissue is abnormal. This can affect the heart, blood vessels, eyes, lungs, and nervous system. Learn more about causes, risk factors, screening and prevention, signs and symptoms, diagnoses, and treatments for Marfan syndrome, and how to participate in clinical trials.
TY - JOUR. T1 - Aortic root replacement in 271 Marfan patients. T2 - A 24-year experience. AU - Gott, Vincent L. AU - Cameron, Duke E.. AU - Alejo, Diane E.. AU - Greene, Peter Schuyler. AU - Shake, Jay G.. AU - Caparrelli, David J.. AU - Dietz, Harry C. PY - 2002. Y1 - 2002. N2 - Background. The introduction of composite graft repair of aortic root aneurysm by Hugh Bentall in 1968 promised Marfan patients the choice for a normal life expectancy. We performed our first Bentall composite graft procedure in 1976 and herein report our 24-year experience with 271 Marfan patients. Methods. Between September 1976 and August 2000, 232 Marfan patients had a composite graft replacement of the aortic root, 15 patients received a homograft, and 24 had a valve-sparing procedure. Results. Two hundred thirty-five Marfan patients underwent elective aortic root replacement with no 30-day mortality. Two early deaths occurred among 36 patients who underwent urgent or emergent operation. Eighty-three percent of ...
Marfan syndrome is caused by an abnormality (or mutation) in one specific gene (FBN1). Up to 75 percent of the time, this mutated gene is inherited from a parent who is affected.. Nearly 25 percent of the time, cases are thought to be caused by new mutations in the family (not inherited from a parent). Scientists have noted that offspring of fathers who are older (than the norm) at the time of conception may be affected by this gene mutation more often than others. Mutations occur sporadically (by chance) in the sperm of older men (over 45 years) who father children at a rate of 1 percent. These "point mutations" can result in Marfan syndrome, or other disorders, depending on which gene is accidentally altered.. Marfan syndrome is an autosomal dominant disorder. This means that each offspring of an affected parent will have a 50 percent chance of also being born with the disorder. Similarly, when a child is born with Marfan syndrome to unaffected parents, the child will have a 50 percent risk of ...
TY - JOUR. T1 - Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions.. AU - Song, Howard K.. AU - Preiss, Liliana R.. AU - Maslen, Cheryl L.. AU - Kroner, Barbara. AU - Devereux, Richard B.. AU - Roman, Mary J.. AU - Holmes, Kathryn W.. AU - Tolunay, H. Eser. AU - Desvigne-Nickens, Patrice. AU - Asch, Federico M.. AU - Milewski, Rita K.. AU - Bavaria, Joseph. AU - LeMaire, Scott A.. AU - GenTAC Consortium, Consortium. PY - 2014. Y1 - 2014. N2 - The long-term outcomes of aortic valve-sparing (AVS) root replacement in Marfan syndrome (MFS) patients remain uncertain. The study aim was to determine the utilization and outcomes of AVS root replacement in MFS patients enrolled in the Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). At the time of this analysis, 788 patients with MFS were enrolled in the GenTAC Registry, ...
Patients with Marfan syndrome displayed higher rates of aortic complications in long-term follow-up after aortic valve replacement (AVR) than patients with bicuspid aortic valve disease, according to results of a study published June 1 in the Journal of the American College of Cardiology. In a retrospective comparison, Shinobu Itagaki, MD, et al. assessed the long-term follow-up of thoracic aortopathy after AVR in patients with bicuspid aortic valve disease and those with Marfan syndrome. The study compared the outcomes of 13,205 patients-2,079 with bicuspid aortic valves and 73 with Marfan syndrome-who had AVR replacement between 1995 and 2010. The results of the study showed that patients with Marfan syndrome were 14 times more likely to present with aortic dissection during long-term follow-up and five times more likely to undergo thoracic aortic surgery. The authors of the study note that these results "provide additional support for the discrete treatment algorithms for patients with ...
Among the Marfan-related conditions is congenital contractural arachnodactyly, which exhibits dolichostenomelia, progressive scoliosis, congenital joint contractures, and deformity of the helix of the ear. Some people with CCA have mitral valve prolapse but aortic dilatation or ectopia lentis should prompt consideration of Marfan syndrome. In most inherited forms of ectopia lentis, findings are limited to the eye. Some families with autosomal dominant ectopia lentis have mild skeletal and cardiovascular features suggestive of the Marfan syndrome, but do not meet diagnostic criteria; some of these families have mutations in FBN1 . Similarly, families lacking ectopia lentis and severe skeletal features, but having mitral valve prolapse, or aortic root dilatation, or both, have been shown, in a few cases, to link to or have mutations in FBN1. However, some families with autosomal dominant aortic aneurysm or dissection, and many sporadic patients with aortic aneurysm do not appear to have a mutation ...
Marfan syndrome is a heritable disorder of connective tissue. It can affect the heart and blood vessels, eyes, and skeleton. In 1896 Dr. Antonine Jean Marfan, a French paediatrician, identified the disorder. Although Marfan syndrome was known since the end of the nineteenth century most of the details where discovered much later, between 1950 and 1990. In some of the following organ systems the Marfan syndrome may cause serious problems:. Heart and blood vessels. Enlargement and stretching of the aorta ("dilatation") can cause a dissection or a rupture of the main blood vessel. This is a life threatening event and requires immediate surgery. A prolapse of the heart valves may also necessitate heart surgery.. Eyes. The main ophthalmologic symptoms are myopia, dislocated lenses and retinal detachment. These optical problems can be corrected by glasses, contact lenses or surgery.. Skeleton. Primary orthopaedic problems are curvature of the spine (scoliosis or kyphosis), inward or outward growth of ...
Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene. We screened 8 patients with either neonatal Marfan syndrome or severe cardiovascular complications of Marfan syndrome for mutations in this region of the gene. Using intron-based exon-specific primers, we amplified exons 23-32 from genomic DNAs, screened these fragments by single-stranded conformational polymorphism analysis, and sequenced indicated exons. This analysis documented mutations in exons 25-27 of the FBN1 mutations in 6 of these patients. These results, taken together with previously published FBN1 ...
Pediatric researchers at Brenner Childrens Hospital will be testing a new medication for Marfan syndrome. Wesley Covitz, M.D., head of pediatric cardiology, and his team will test whether a drug commonly used to treat high blood pressure will be effective in children and young adults with Marfan Syndrome and will compare their findings with results of the currently used beta-blocker medication. Patients will be given the original beta blocker or an angiotensin receptor blocker (the new medication) to slow the enlargement of the aorta (a large artery which carries blood away from the heart) which can result in sudden tearing of the aorta if left untreated. Both drugs are commonly used to treat high blood pressure in adults and the new drug has been found effective in laboratory studies, Covitz said. Marfan syndrome is a relatively rare genetic condition in which patients lack a gene that allows them to make elastic tissue. Patients with the disease tend to be extremely
The Marfan syndrome is an inherited multisystem disorder caused by mutations in fibrillin 1, with cardiovascular involvement being the most important feature of the phenoptype. Affected individuals have impaired flow-mediated dilatation (FMD) of large arteries of a similar severity to patients with chronic heart failure (CHF).Skeletal muscle bioenergetics were studied in patients with the Marfan syndrome in order to evaluate the impact of impaired flow-mediated dilatation on skeletal muscle metabolism. Skeletal muscle metabolism is abnormal in CHF and the aetiology is unclear.Thirteen patients and 12 controls were studied by phosphorus Magnetic Resonance spectroscopy of the calf muscle using an incremental exercise protocol and by Magnetic Resonance imaging.Metabolic variables measured at rest were normal in Marfan patients. For a similar total work output measured at end of the standardized incremental exercise, the total rate of energy consumption (EC) was significantly increased in patients (21.2 +/-
Most mothers will do anything for their children. When Tanner Hoops was diagnosed at the age of 3 with Marfan Syndrome, mom Tonya Archer, after finding him a team of doctors that knew how to treat the condition, immediately became involved with the Heart of Iowa Chapter of the National Marfan Foundation and raising funds…
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.. Principal objective : To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease in individuals from families with clinical variability (intrafamilial) and in independant probands (interfamilial).. Judgment criteria : Correlation allelic expression level-phenotype Method : In Marfan patients with a FBN1 nul allele, FBN1 RNA will be extracted from a fibroblast culture. Allelic FBN1 expression level will be performed by quantitative RT-PCR and then compared with clinical ...
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.. Principal objective : To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease in individuals from families with clinical variability (intrafamilial) and in independant probands (interfamilial).. Judgment criteria : Correlation allelic expression level-phenotype Method : In Marfan patients with a FBN1 nul allele, FBN1 RNA will be extracted from a fibroblast culture. Allelic FBN1 expression level will be performed by quantitative RT-PCR and then compared with clinical ...
Marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes. The genetic mutation responsible for Marfan was discovered in 1991. It affects the bodys production of fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component of the microfibrils that allow tissues to stretch repeatedly without weakening. Because the childs fibrillin is abnormal, his or her connective tissues are looser than usual, which weakens or damages the support structures of the entire body. The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the childs arm span being greater than his or her height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The childs face may also be long and narrow, and he or she may have a noticeable ...
Formation of aortic aneurysms as a consequence of augmented transforming growth factor β (TGF-β) signaling and vascular smooth muscle cell (VSMC) dysfunction is a potentially lethal complication of Marfan syndrome (MFS). Here, we examined VSMC senescence in patients with MFS and explored the potential mechanisms that link VSMC senescence and TGF-β. Tissue was harvested from the ascending aorta of control donors and MFS patients, and VSMCs were isolated. Senescence-associated β-galactosidase (SA-β-gal) activity and expression of senescence-related proteins (p53, p21) were significantly higher in aneurysmal tissue from MFS patients than in healthy aortic tissue from control donors. Compared to control-VSMCs, MFS-VSMCs were larger with higher levels of both SA-β-gal activity and mitochondrial reactive oxygen species (ROS). In addition, TGF-β1 levels were much higher in MFS- than control-VSMCs. TGF-β1 induced VSMC senescence through excessive ROS generation. This effect was suppressed by Mito-tempo,
Purpose: Patients with Marfan syndrome are at high risk of significant retinal pathology including retinal detachments. Examination of these patients is often difficult due to poorly dilating pupils, subluxated lens and young age. This study aimed to report the prevalence of peripheral retinal disease, using the Optos 200Tx imaging device, in a group of Marfan patients.. Methods: 72 patients were seen on August 2nd as a part of 2012 Marfan Eye Consortium of Chicago. Of the 61 consented patients, posterior color ultra-widefield retinal images were obtained using the Optos 200Tx (age range of tested patients 3-56yrs) on 54 patients (108 eyes). The ability to view the fundus was divided into 2 groups for analysis. Post-equator category: Eyes in which we were able to view posterior pole up to equator) and anterior to equator: eyes where the examiner had sufficient retina view anterior to equator of the peripheral retina. The ultra-widefield color images were analyzed by vitreo-retinal ...
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS-whether or not established correctly-can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and ...
GENETIC TESTING AND MARFAN SYNDROME Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related
Vision problems should be treated when possible.. Monitor for scoliosis, especially during the teenage years.. Medicine to slow the heart rate may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition should avoid participating in contact sports. Some people may need surgery to replace the aortic root and valve.. People with Marfan syndrome who have heart valve conditions may need to take antibiotics before dental procedures to prevent endocarditis (infection of the valves). Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta. ...
Vision problems should be treated when possible.. Monitor for scoliosis, especially during the teenage years.. Medicine to slow the heart rate may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition should avoid participating in contact sports. Some people may need surgery to replace the aortic root and valve.. People with Marfan syndrome who have heart valve conditions may need to take antibiotics before dental procedures to prevent endocarditis (infection of the valves). Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta. ...
The genetic disorder, which affects the connective tissue, is explained on Facts about Marfan Syndrome. It is often abbreviated as MFS. The people affected with Marfan syndrome usually have long toes, finger, legs and arms. Moreover, they have thin and tall posture. Other signs include scoliosis and flexible joints.
... affects the bodys connective tissue and can cause problems in the eyes, joints, and heart. But teens with Marfan syndrome can live normal lives. Find out how in this article.
Marfan Syndrome Heart Surgery is aimed at preventing dissection or rupture and treating valve problems. Learn more about it from the nations top ranked heart center.
An investigational treatment for Marfan syndrome is as effective as the standard therapy at slowing enlargement of the aorta, the large artery of the heart that delivers blood to the body, new research shows. The findings indicate a second treatment option for Marfan patients, who are at high risk of sudden death from tears in the aorta.
Objectives: The aim of our study is to investigate the frequency of structural heart diseases in patients with Marfan syndrome (MS) and to reveal the importance of clinical follow-up in MS. Materials and methods: Study population consisted of 17 patients admitted to the Pediatric Cardiology department between January 2005 and March 2010 with the diagnosis of MS according to the Ghent criteria. Patients were evaluated for the eye, genetic and the cardiovascular system abnormalities. Physical examination findings, echocardiographic, and radiological examinations of the patients were evaluated retrospectively. Results: Of the 17 cases, 9 were girls and 8 were males, ages ranged from 1 month to 17 years (mean 9.7 years). There was a second degree of kinship between mothers and fathers in 5 patients. Respiratory distress, syncope, chest pain and palpitation were the most seen in the presentation complaint of the patients. Skeletal findings observed in 13 patients, 4 patients had subluxation of the ...
Introduction Marfan Syndrome (sometime Marfans Syndrome) is an autosomal dominant connective tissue disorder. Epidemiology and Aeitiology 25% of cases occur without family history Reduced life expectancy - average is around 60 Pathology ...
Aortic dissection is a well-known complication of Marfan syndrome. Aortic dissection in patients with Marfan syndrome is associated with aortic root dilatation. As imaging techniques have improved, it has become clear that some patients with Marfan syndrome, in the absence of symptoms, may have evidence of a prior aortic dissection. A 47-year-old white man with documented Marfan syndrome and no prior symptomatology referable to aortic dissection had elective high-resolution MRI of the aorta for an unrelated research project. Importantly, he had no known risk factors for atherosclerotic disease. The MR images showed that his aortic root was not dilated, with a diameter of 36 mm (Figure 1A⇓). His ascending aorta was not dilated, with normal wall thickness and no evidence of an intimal flap (Figure 1B⇓). However, a small defect was evident in the wall of the descending thoracic aorta that was more readily appreciated on magnified views of the region (Figure 2⇓). Proton density-weighted ...
BACKGROUND: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. MATERIAL AND METHODS: This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016 ...
Aortic pathology can have devastating consequences with significant morbidity and mortality. Marfan syndrome patients have a profound predisposition to develop aortic root pathology and can develop complications of aortic root pathology such as aneurysm of the aorta (especially the aortic root), aortic dissection and aortic valve regurgitation. Recent advances in understanding the pathophysiology of the consequences of fibrillin-1 deficiency in Marfan syndrome and the development of murine models of this condition have opened up the possibility for translational research to be conducted in this area. Potential pharmacological treatments can now be extensively researched prior to clinical trials. Pravastatin, a 3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) reductase inhibitor has been shown to have a beneficial effect on atherosclerosis via
TY - JOUR. T1 - Ventrikelseptumaneurysma als seltene klinische Manifestation des Marfan-Syndroms. AU - Bauer, U.. AU - Bauer, M.. AU - Siniawski, H.. AU - Gülmez, H.. AU - Knollmann, Friedrich D. AU - Lange, P. E.. AU - Hetzer, R.. PY - 2004/4. Y1 - 2004/4. N2 - This is the first description of a patient with Marfan syndrome and an aneurysm of the ventricular septum. Apart from a borderline dilatation of the ascending aorta, there were no cardiovascular manifestations of Marfan syndrome. A transesophageal echocardiographic examination showed a large aneurysm of the ventricular septum. To prevent the imminent rupture and the acute occurrence of a significant left-to-right shunt on the ventricular level, as well as increasing irritation of tricuspid valve, an elective operation was performed. In patients with Marfan syndrome, besides the routine cardiological diagnostics, a search for intracardial defects is also necessary.. AB - This is the first description of a patient with Marfan syndrome and ...
Thoracic aortic aneurysms can be triggered by genetic disorders such as Marfan syndrome (MFS) and related aortic diseases as well as by inflammatory disorders such as giant cell arteritis or atherosclerosis. In all these conditions, cardiovascular risk factors, such as systemic arterial hypertension, may contribute to faster rate of aneurysm progression. Optimal medical management to prevent progressive aortic dilatation and aortic dissection is unknown. β-blockers have been the mainstay of medical treatment for many years despite limited evidence of beneficial effects. Recently, losartan, an angiotensin II type I receptor antagonist (ARB), has shown promising results in a mouse model of MFS and subsequently in humans with MFS and hence is increasingly used. Several ongoing trials comparing losartan to β-blockers and/or placebo will better define the role of ARBs in the near future. In addition, other medications, such as statins and tetracyclines have demonstrated potential benefit in ...
Objective: Marfan syndrome (MFS), an inherited defect in the extracellular matrix protein fibrillin, is associated with an increased incidence of ascending thoracic aortic aneurysms (ATAAs) which may occur through different mechanisms than ATAAs resulting from other causes. Protein kinase C (PKC) is an intracellular signaling enzyme family characterized into three subclasses (conventional, novel, and atypical) based on co-factor requirements for activation. Recent evidence has linked changes in PKC expression and activity to aneurysm formation. This study tested the hypothesis that differential PKC isoform profiles are present in ATAAs in MFS compared to degenerative ATAAs in patients with tricuspid aortic valves (TAV).. Methods: A comprehensive profile of PKC isoforms was measured by quantitative immuno-blotting in surgical ATAA specimens from 8 patients with MFS, 55 patients with TAV and a reference control group (n=21) of normal ascending aortic specimens. Results (mean ± SEM) are expressed ...
Marfan syndrome is an autosomal-dominant connective tissue disorder characterized by pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems and resulting from mutations...
Clinical Trials - clinicaltrials.gov Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, partic...
Id like to thank Kirsten for the opportunity to share my story with you here today. Shes asked me to talk about Marfan syndrome and how it affects our family.. Marfan syndrome is a rare, life-threatening connective tissue disorder. Connective tissue is basically the glue that holds your body together, so most of the body can be affected, specifically the eyes, heart and aorta, lungs, skin, bones, and dura sac (which protects your spinal cord). The most dangerous aspect of Marfan syndrome is aortic aneurysms: weak bulges in the aorta that can tear, which is life-threatening.. Some signs of Marfan syndrome include a tall (in relation to your family) stature, being thin, having long fingers, disproportionately long arms and legs, scoliosis and kyphosis, lens dislocation, a concave or protruding chest, and stretch marks that appear in odd places, like the shoulder blades. There are not outward symptoms of aortic enlargement, so its very important to get a thorough scan of the heart valves and ...
Heart and blood vessels (cardiovascular system) - 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 (aortic dissection) 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 ...
Clinicians should focus on two characteristics of any disorder: natural history and clinical history. The former is defined by manifestations and outcomes that typically occur in the absence of management. The latter is the course of the disease when health professionals and even patients themselves intervene. The concepts are clearly related in a number of ways. One challenging aspect of this inter-relationship results from improved clinical history: as patients live longer, "new", age-dependent features of the disease emerge.. These concepts are well illustrated by Marfan syndrome (MFS). This autosomal dominant heritable disorder of connective tissue is not rare-with a prevalence of one in a few thousand-and has major cardiovascular involvement.1 2 Myxomatous deterioration of the atrioventricular valves leads to prolapse in the majority and moderate regurgitation or worse in some. Dysrrhythmia is common.3 A dilated cardiomyopathy occurs in some. The most characteristic and troublesome feature ...
This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Marfan Syndrome. Sequence variants and/or copy number variants (deletions/duplications) within the FBN1 g...
MASS syndrome is a medical disorder similar to Marfan syndrome. MASS stands for: Mitral valve prolapse, Aortic root diameter at upper limits of normal for body size, Stretch marks of the skin, and Skeletal conditions similar to Marfan syndrome. MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome. It is caused by a similar mutation in the gene called fibrillin-1 that tells the body how to make an important protein found in connective tissue. This mutation is an autosomal dominant mutation in the FBN1 gene that codes for the extracellular matrix protein fibrillin-1; defects in the fibrillin-1 protein cause malfunctioning microfibrils that result in improper stretching of ligaments, blood vessels, and skin. Someone with MASS phenotype has a 50 percent chance of passing the gene along to each child. People with features of MASS Phenotype need to see a doctor who knows about connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. ...
Marfan Syndrome is an inherited disorder of connective tissue which affects many organ systems including the skeleton, lungs, eyes, heart and blood vessels.
Marfan syndrome is a genetic disorder that affects the bodys connective tissue. Connective tissue holds the bodys cells, organs, and other tissue together. Connective tissue is also important in growth and development.
Patients with congenital heart defects, such as Marfan syndrome (MFS), are experiencing longer life expectancies due to new advances in medicine-resulting in a greater need for medical rehabilitation.
Marfan syndrome is a genetic condition that affects the bodys connective tissue. Connective tissue holds all parts of the body together and helps control how t
Marfan syndrome is a genetic disorder that causes the connective tissue in the body to weaken. Learn more from Boston Childrens Hospital.
... is a progressive genetic disorder that affects the bodys connective tissue. Even though the disease has no cure, doctors can successfully treat just about all of its symptoms.
... is a disorder that affects the bodys connective tissue. This causes problems in many systems of the body, but especially the heart, eyes, and bones.
Rybczynski, M., Bernhardt, A. M.J., Rehder, U., Fuisting, B., Meiss, L., Voss, U., Habermann, C., Detter, C., Robinson, P. N., Arslan-Kirchner, M., Schmidtke, J., Mir, T. S., Berger, J., Meinertz, T. and von Kodolitsch, Y. (2008), The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am. J. Med. Genet., 146A: 3157-3166. doi: 10.1002/ajmg.a.32595 ...