Genotypephenotype correlations in marfan syndrome heart. To make the diagnosis of marfan syndrome more consistent and of more prognostic value, the berlin diagnostic criteria of 1988 were revised. I revised ghent criteria for the diagnosis of marfan syndrome mfs and related conditions. Pdf the revised ghent nosology for the marfan syndrome. Definitive diagnosis of marfan syndrome is made by combining physical findings with detection of a point mutation in one of the fibrillin genes. Skeletal findings on the old ghent nosology are given less weight and the findings are defined as the systemic score. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. It was published in the journal of medical genetics.
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. Features of marfan syndrome not listed in the ghent. Pdf the diagnosis of marfan syndrome mfs relies on defined clinical criteria ghent nosology, outlined by international expert opinion to. The implications of the condition in pregnancy and importance of a high standard of antenatal care are considered. Jun 16, 2015 three international nosologies have been proposed for the diagnosis of marfan syndrome mfs.
The diagnosis of marfan syndrome relies on a set of defined clinical criteria the ghent nosology developed to facilitate accurate recognition of the syndrome and improve patient management and counseling. Presently, clinicians use the 2010 revised ghent nosology, which includes optional genetic sequencing of the fbn1 gene, to diagnose patients. Most individuals with mfs carry mutations in the gene fbn1. To decrease the risk of premature or missed diagnosis, an international panel of experts revised the criteria in 2010. They also typically have flexible joints and scoliosis. The revised ghent nosology for the marfan syndrome journal of. An international expert panel has established a revised ghent nosology that puts more weight on the cardiovascular manifestations in particular, aortic root aneurysm and ectopia lentis, which are the cardinal clinical features. Marfan syndrome wikimili, the best wikipedia reader.
People with marfan tend to be tall and thin, with long arms, legs, fingers and toes. Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Marfan syndrome, ghent nosology, diagnosis, fbn1, mutation, aorta. Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular and skeletal systems. Perspectives on the revised ghent criteria for the diagnosis. I revised ghent criteria for the diagnosis of marfan. Summary of diagnostic criteria the marfan foundation. The presence of these 2 features are sufficient for the unequivocal diagnosis of marfan syndrome.
Formal criteria for the diagnosis of marfan syndrome, including cardiovascular aortic root aneurysm, musculoskeletal pectus excavatum, and ophthalmologic findings ectopia lentis. Around 7580% of children were diagnosed with marfan at the moment of presentation 3. Revised diagnostic criteria for the marfan syndrome. The diagnosis of marfan syndrome mfs relies on defined clinical criteria ghent nosology, outlined by international expert. This autosomal heritable disease is mainly attributable to a defect in the fbn1 gene. Marfan syndrome in 2010 the ghent nosology was revised, and new diagnostic criteria superseded the previous agreement made in 1996. The ghent nosology for marfan syndrome was revised in 2010. Diagnosis of marfan syndrome will be discussed using the revised ghent nosology. I revised ghent criteria for the diagnosis of marfan syndrome mfs.
However, the ghent nosology for mfs was updated in 2010 and made some important alterations. Those patients which are classified as potential marfan or nonspecific connective tissue disorder need further fu 4. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Ghent nosology definition of ghent nosology by medical. It puts more weight on aortic root aneurysm, ectopia lentis and fibrillin1 fbn1 mutation.
The revised ghent diagnostics nosology of marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. However, fibrillin1 gene mutations are believed to exert a dominant negative effect. The most serious complications involve the heart and aorta, with an increased risk of. Perspectives on the revised ghent criteria for the diagnosis of marfan. To maximize the utility of the diagnostic criteria of mfs, a fair and transparent process of nosology development is essential. Revised ghent nosology is a good diagnostic tool for children with marfan syndrome 2. However, behind its familiar face, marfan syndrome hides less wellknown features. The revised ghent nosology for the marfan syndrome journal.
The revised ghent nosology for the marfan syndrome core. The diagnosis of marfan syndrome mfs remains challenging despite the 2010 revision to ghent nosology criteria, and there is a lack of published information regarding fbn1 genotype associations. Our aim was to study prevalence, incidence, and age at. The prevalence of marfan syndrome using the 2010 revised ghent nosology diagnostic criteria was 6. Study design we report on a fullterm male neonate, who showed at birth characteristics and dysmorphisms suggestive of nmfs, combined with the detection of severe cardiovascular disease. Guidelines for the diagnosis and management of marfan syndrome 1. The revised ghent nosology presents the classical features of marfan syndrome. Aortic root dilatation or dissection and at least seven points from the table below. The severe neonatal form of marfan syndrome should be considered in the differential diagnosis. The role of health professionals in supporting those affected by marfan syndrome is discussed.
To confirm the diagnosis of mfs, ghent1 and ghent2 perform similarly, but ghent2 is easier to use. The revised ghent nosology for the marfan syndrome article pdf available in journal of medical genetics 477. Diagnosis, follow up and treatment of children with marfan. Perspectives on the revised ghent criteria for the. The revised guidelines of 2010 place more emphasis on aortic root dilatation, ectopia lentis and fbn1 mutation testing in the diagnostic assessment of marfan syndrome. Features of marfan syndrome not listed in the ghent nosology. This also encompasses the importance of health promotion. Objective the marfan syndrome mfs is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin1 gene fbn1 with skeletal, cardiac, and ocular involvement. The 2010 revised ghent nosology for marfan syndrome relies on seven rules as indicated below. Loeys bl the revised ghent nosology for the marfan syndrome. Full text perspectives on the revised ghent criteria for the diagnosis.
The revised ghent criteria used for marfan syndrome diagnosis helped in resolving some of the confusion, especially in younger children. Decreased frequency of fbn1 missense variants in ghent. Until 2010, the clinical diagnosis of marfan syndrome was. These ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with. Diagnosis is currently based on the revised ghent nosology of 2010. Although the revised ghent criteria of 2010 are easier to apply, they do raise some issues that need to be addressed. The diagnosis of marfan syndrome mfs relies on defined clinical criteria ghent nosology, outlined by international expert opinion to facilitate. Marfan syndrome mfs is a genetic disorder of the connective tissue. The utility of the revised ghent nosology for pediatric. We report on a case of bilateral ectopia lentis in a 2year.
The pathogenesis of marfan syndrome has not been fully elucidated. The diagnosis of marfan syndrome mfs remains challenging despite the 2010 revision to ghent nosology criteria, and there is a lack of published. Prevalence, incidence, and age at diagnosis in marfan syndrome. Csanz guidelines for the diagnosis and management of marfan syndrome page 2 diagnostic dilemmas arise because of inter and intrafamilial variability. An international expert panel has established a revised ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. Aortopathy, manifest as thoracic aortic aneurysm taa and dissection, is the major cause of morbidity and mortality. Loeysdietz syndrome is a systemic connective tissue. According to the revised ghent marfan nosology, a clinical diagnosis can be made if one of the four following rules in an index patient is fulfilled. There have been reports of a less severe form of the condition, with normal activity of lysyl hydroxylase and normal hydroxylysine content in the dermis omim 229200. The revised ghent nosology for the marfan syndrome. It requires a comprehensive clinical examination as well as multiple imaging modalities. Marfan syndrome mfs is an autosomal dominant connectivetissue disorder associated with abnormalities of the cardiovascular, ocular and musculoskeletal systems. Three international nosologies have been proposed for the diagnosis of marfan syndrome mfs. Genetic testing may help to make the diagnosis and exclude important other disease entities.
1402 265 1409 812 125 1316 1216 428 549 99 755 164 869 1303 15 239 228 470 914 220 589 1109 626 1212 305 1179 724 671 1508 982 1113 537 601 608 251 261 908 1451