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Niels Holmark Andersen - One of the best experts on this subject based on the ideXlab platform.
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Aortic events in a nationwide Marfan Syndrome cohort
Clinical Research in Cardiology, 2017Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Pernille A. Gregersen, Niels Vejlstrup, John R. Østergaard, Claus Højbjerg Gravholt, Niels Holmark AndersenAbstract:Background Marfan Syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan Syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan Syndrome cohort. Method The nationwide cohort of Danish Marfan Syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan Syndrome diagnosis prior or after the first aortic event. Results From the total cohort of 412 patients, 150 (36.4 %) had an aortic event. Fifty percent were event free at age 49.6. Eighty patients (53.3 %) had prophylactic surgery and seventy patients (46.7 %) a dissection. The yearly event rate was 0.02 events/year/patient in the period 1994–2014. Male patients had a significant higher risk of an aortic event at a younger age with a hazard ratio of 1.75 (CI 1.26–2.42, p = 0.001) compared with women. Fifty-three patients (12.9 %) were diagnosed with MFS after their first aortic event which primarily was aortic dissection [ n = 44 (83.0 %)]. Conclusion More than a third of MFS patients experienced an aortic event and male patients had significantly more aortic events than females. More than half of the total number of dissections was in patients undiagnosed with MFS at the time of their event. This emphasizes that diagnosing MFS is lifesaving and improves mortality risk by reducing the risk of aorta dissection.
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Aortic events in a nationwide Marfan Syndrome cohort.
Clinical Research in Cardiology, 2016Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Pernille A. Gregersen, Niels Vejlstrup, John R. Østergaard, Claus Højbjerg Gravholt, Niels Holmark AndersenAbstract:Background Marfan Syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan Syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan Syndrome cohort.
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prevalence incidence and age at diagnosis in Marfan Syndrome
Orphanet Journal of Rare Diseases, 2015Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Niels Vejlstrup, John R. Østergaard, Lars Folkestad, Mette Gaustadnes, Niels Holmark AndersenAbstract:Background Marfan Syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan Syndrome.
Guillaume Jondeau - One of the best experts on this subject based on the ideXlab platform.
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maternal complication of pregnancy in Marfan Syndrome
International Journal of Cardiology, 2009Co-Authors: Laure Pacini, Frank Digne, Ariane Boumendil, Christine Muti, Catherine Boileau, Delphine Detaint, Guillaume JondeauAbstract:Abstract Objectives Evaluate the risk of aortic complications (aortic dissection or prophylactic aortic surgical replacement) associated with pregnancy in Marfan Syndrome in the absence of specific care. Background Data are scarce on aortic complications during pregnancy in Marfan Syndrome. Methods Retrospective study on a large population (415 patients) followed up in our multidisciplinary out-patient clinic devoted to Marfan Syndrome. Women over 18 years of age were divided into 2 groups: 85 had been pregnant (MFSP+) giving birth to 136 children through 160 pregnancies; 68 had not been pregnant (MFSP−). The occurrence of aortic complication was compared between the 2 groups using a piecewise discrete-time model. Results In MFSP+, 7 aortic complications occurred during 160 pregnancies (4.4%) and 17 aortic complications occurred during 1870 years of follow-up out of pregnancy. In MFSP−, 14 aortic complications occurred over 940 years of follow-up. Pregnancy was associated with a 5 fold increase in risk of aortic complication, which did not translate into increased risk during life, suggesting that pregnancy may act as a revealer in women prone to aortic complication. Conclusions Pregnancy is associated with a transient increased risk of aortic complication in the absence of specific care.
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molecular genetics of Marfan Syndrome
Current Opinion in Cardiology, 2005Co-Authors: Catherine Boileau, Guillaume Jondeau, Takeshi Mizuguchi, Naomichi MatsumotoAbstract:Purpose of reviewMarfan Syndrome, the founding member of connective tissue disorders, is characterized by involvement of three major systems (skeletal, ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.1 was found to cause Marfan Syndrome in 1991, and in 2004 TGFBR2 at 3p2
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Marfan Syndrome and fibrillin disorders.
Joint bone spine, 2000Co-Authors: Le Parc Jm, Christine Muti, Catherine Boileau, Guillaume Jondeau, Molcard S, Florence Tubach, Bertrand Chevallier, P. J. PisellaAbstract:Marfan Syndrome is the second most common inherited connective tissue disorder after osteogenesis imperfecta. Musculoskeletal abnormalities are at the forefront of the clinical picture and count among the major diagnostic criteria for Marfan Syndrome, together with cardiovascular and ocular system involvement. Early diagnosis is of the utmost importance since preventive measures significantly increase life expectancy and prevent the occurrence of impairments and disabilities. Marfan Syndrome is due to mutations within the fibrillin-1 gene, which is the main protein of the microfibril network. Microfibrils play a crucial role in the trophicity and function of elastic tissue. Multidisciplinary management of the patients and their families is vital.
Kristian A. Groth - One of the best experts on this subject based on the ideXlab platform.
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Aortic events in a nationwide Marfan Syndrome cohort
Clinical Research in Cardiology, 2017Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Pernille A. Gregersen, Niels Vejlstrup, John R. Østergaard, Claus Højbjerg Gravholt, Niels Holmark AndersenAbstract:Background Marfan Syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan Syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan Syndrome cohort. Method The nationwide cohort of Danish Marfan Syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan Syndrome diagnosis prior or after the first aortic event. Results From the total cohort of 412 patients, 150 (36.4 %) had an aortic event. Fifty percent were event free at age 49.6. Eighty patients (53.3 %) had prophylactic surgery and seventy patients (46.7 %) a dissection. The yearly event rate was 0.02 events/year/patient in the period 1994–2014. Male patients had a significant higher risk of an aortic event at a younger age with a hazard ratio of 1.75 (CI 1.26–2.42, p = 0.001) compared with women. Fifty-three patients (12.9 %) were diagnosed with MFS after their first aortic event which primarily was aortic dissection [ n = 44 (83.0 %)]. Conclusion More than a third of MFS patients experienced an aortic event and male patients had significantly more aortic events than females. More than half of the total number of dissections was in patients undiagnosed with MFS at the time of their event. This emphasizes that diagnosing MFS is lifesaving and improves mortality risk by reducing the risk of aorta dissection.
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Aortic events in a nationwide Marfan Syndrome cohort.
Clinical Research in Cardiology, 2016Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Pernille A. Gregersen, Niels Vejlstrup, John R. Østergaard, Claus Højbjerg Gravholt, Niels Holmark AndersenAbstract:Background Marfan Syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan Syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan Syndrome cohort.
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prevalence incidence and age at diagnosis in Marfan Syndrome
Orphanet Journal of Rare Diseases, 2015Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Niels Vejlstrup, John R. Østergaard, Lars Folkestad, Mette Gaustadnes, Niels Holmark AndersenAbstract:Background Marfan Syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan Syndrome.
Reed E. Pyeritz - One of the best experts on this subject based on the ideXlab platform.
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Marfan Syndrome: improved clinical history results in expanded natural history
Genetics in Medicine, 2019Co-Authors: Reed E. PyeritzAbstract:Life expectancy for a person with Marfan Syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed routinely have improved, and will continue to be. Prominent examples are the eyes, the heart and aorta, and some features of the skeletal system. Meanwhile, the natural histories of organ systems that have not been subjected to treatment need to be described. This is particularly important as due to the improved life span many symptoms and organ systems are only recently being recognized as being intrinsic to Marfan Syndrome. Examples are the distal aorta and peripheral arteries, ventricular function, the central nervous system, sleep apnea, and adiposity. As a result, each person with Marfan Syndrome will need to be evaluated and followed by more specialists than previously. Moreover, the coordinator of diagnostic testing and clinical referral must be aware of the expanded phenotype as people with Marfan Syndrome age and the importance of life-long management of classical and novel features. The benefits of increased longevity and its consequences need to be addressed by investigators, health-care providers, and patients alike.
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medical management of Marfan Syndrome
Circulation, 2008Co-Authors: Martin G Keane, Reed E. PyeritzAbstract:Marfan Syndrome is an autosomal dominant, multisystem disease characterized by long bone overgrowth and other skeletal abnormalities, dislocation of the ocular lens, pneumothorax, decreased skeletal muscle mass, mitral valve prolapse, and dilatation of the aortic root. Antoine BernardJean Marfan first described the Syndrome in 1896 in a young patient with peculiarly long and thin digits (subsequently termed arachnodactyly), elongated limbs (which he termed dolichostenomelia), and congenital contractures of multiple joints. Because of the latter feature, this patient may really have had congenital contractural arachnodactyly, a connective tissue disorder not described until 1968. For the half century subsequent to Marfan’s report, features in other systems were described in patients with thin, elongated limbs: mitral valve disease in 1912; dislocation of the ocular lens in 1914; ruptured aortic aneurysm in 1918; aortic root dilatation and dissection in 1943; and autosomal dominant inheritance in 1949. Manifestations occur in many other tissues and organs and are increasingly being recognized as patients survive to older ages. 1 An accurate incidence has been impossible to define because of the age dependency of many of the features, the common occurrence of some features in the general population (such as scoliosis; lean, tall habitus; mitral valve prolapse; myopia), and shifting diagnostic criteria. Several conditions that were once classified as Marfan (eg, homocystinuria, Loeys-Dietz Syndrome) are recognized now as clearly distinct. However, Marfan Syndrome is clearly one of the more common, potentially lethal Mendelian conditions with an estimated prevalence of 1 case per 3000 to 5000 individuals. This figure does not appear to vary with ethnicity or geography.2 Mutations in the gene (FBN1) that encodes the extracellular matrix protein, fibrillin-1, cause classic Marfan Syndrome. 3 Up to one third of cases have neither parent affected and represent de novo mutations in either the gamete from their mother or father. Heterozygosity for a mutation in FBN1 can also produce a variety of overlapping phenotypes with Marfan Syndrome. No robust genotype-phenotype correlations have emerged, despite 1000 mutations being analyzed. 4 Mutations in the middle region of the gene, exons 24 to 32, tend to predict more severe cardiovascular problems at all ages. Other families or sporadic patients in which some of the features of Marfan Syndrome occur, but typically without ectopia lentis, have mutations in 1 of 2 genes (TGFBR1 and TGFBR2) that encode receptors for the cytokine transforming growth factor- (TGF-). 5–7
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The cervical spine in Marfan Syndrome
Spine, 1997Co-Authors: William Hobbs, Paul D. Sponseller, Arnold Peter C. Weiss, Reed E. PyeritzAbstract:STUDY DESIGN Prospective radiographic and clinical analysis of a consecutive unselected population of persons with Marfan Syndrome. OBJECTIVES To determine cervical spine abnormalities present in the Marfan population compared with that seen in the general population. SUMMARY OF BACKGROUND DATA In the treatment of a large population of patients with Marfan Syndrome, three serious cervical spine disorders were noted. To the authors' knowledge, no report of cervical abnormalities in patients with Marfan Syndrome exists in the literature. Therefore, the cervical spine in these patients was studied in a systematic fashion. METHODS An unselected group of 104 consecutive patients with Marfan Syndrome seen at a medical genetics follow-up examination underwent lateral neutral and flexion-extension cervical spine radiographs. Parameters of alignment, size, and stability were measured. Patients with Marfan Syndrome aged 35-45 years and matched controls were given a pain questionnaire to complete. RESULTS The prevalence of focal kyphosis was 16%. A large number of patients with Marfan Syndrome (54%) had increased atlantoaxial translation. The preadolescent Marfan population has a greater range of motion than either the adolescent or adult populations. The Marfan population has an increased radiographic prevalence of basilar impression (36%), and the odontoid height (3.69 +/- 0.53 cm) was larger than reported norms (2.34 +/- 0.22 cm). Cervical stenosis was rare, with 3% having a critical Torg ratio at C3 and 2% having a critical Torg ratio at C6. Neck pain frequency did not differ significantly from that of age-matched controls. CONCLUSION Based on the increased prevalence of several cervical bony and ligamentous abnormalities, patients with Marfan Syndrome were recommended to avoid sports with risks of high-impact loading of the cervical spine. Given the rarity of actual neurologic injuries in the Marfan population, however, radiographs for all patients with Marfan Syndrome undergoing general anesthesia is not recommended.
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Revised diagnostic criteria for the Marfan Syndrome
American Journal of Medical Genetics, 1996Co-Authors: A. De Paepe, Harry C. Dietz, R. B. Devereux, Rcm Hennekam, Reed E. PyeritzAbstract:In 1986, the diagnosis of the Marfan Syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton ed al., 1988]. Over time, weaknesses have emerged in the criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnostic criteria for Marfan Syndrome and related conditions. Most notable are: more stringent requirements for diagnosis of the Marfan Syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; potential contribution of molecular analysis to the diagnosis of Marfan Syndrome; and delineation of initial criteria for diagnosis of other heritable conditions with partially overlapping phenotypes. © 1996 Wiley-Liss, Inc.
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a prospective longitudinal evaluation of pregnancy in the Marfan Syndrome
American Society of Human Genetics. Annual meeting, 1995Co-Authors: Judith Pratt Rossiter, John T Repke, Arlene Morales, Edmond A Murphy, Reed E. PyeritzAbstract:OBJECTIVE : We undertook a prospective evaluation of the outcomes of pregnancy, both maternal and fetal, and the long-term impact of pregnancy on Marfan Syndrome in a series of consecutive, unselected patients. STUDY DESIGN : Forty-five pregnancies in 21 Marfan Syndrome patients were prospectively observed in one institution between 1983 and 1992. During pregnancy, patients were monitored with serial echocardiograms and close attention to symptoms. Maternal and fetal outcomes were recorded, and echocardiographic data were analyzed by least-squares regression. Eighteen of the patients were followed up for 15 months to 13 years after the completion of their last pregnancy for investigation of the long-term impact of pregnancy on the cardiovascular manifestations of Marfan Syndrome. RESULTS : Aortic dissection occurred in two patients, both with increased risk for dissection established before pregnancy. The incidence of obstetric complications otherwise did not exceed that in the general population. Echocardiographic data demonstrated little to no change in aortic root diameter throughout pregnancy in most patients. Long-term follow-up showed no apparent worsening of cardiovascular status attributable to pregnancy in comparison with a group of 18 women with Marfan Syndrome who were of similar age, had a similar degree of disease severity, and underwent no pregnancies. CONCLUSIONS : Patients with Marfan Syndrome in whom cardiovascular involvement is minor and aortic root diameter is < 40 mm usually tolerate pregnancy well, with favorable maternal and fetal outcomes, and without subsequent evidence of aggravated aortic root dilatation over time.
Kirstine Stochholm - One of the best experts on this subject based on the ideXlab platform.
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Aortic events in a nationwide Marfan Syndrome cohort
Clinical Research in Cardiology, 2017Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Pernille A. Gregersen, Niels Vejlstrup, John R. Østergaard, Claus Højbjerg Gravholt, Niels Holmark AndersenAbstract:Background Marfan Syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan Syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan Syndrome cohort. Method The nationwide cohort of Danish Marfan Syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan Syndrome diagnosis prior or after the first aortic event. Results From the total cohort of 412 patients, 150 (36.4 %) had an aortic event. Fifty percent were event free at age 49.6. Eighty patients (53.3 %) had prophylactic surgery and seventy patients (46.7 %) a dissection. The yearly event rate was 0.02 events/year/patient in the period 1994–2014. Male patients had a significant higher risk of an aortic event at a younger age with a hazard ratio of 1.75 (CI 1.26–2.42, p = 0.001) compared with women. Fifty-three patients (12.9 %) were diagnosed with MFS after their first aortic event which primarily was aortic dissection [ n = 44 (83.0 %)]. Conclusion More than a third of MFS patients experienced an aortic event and male patients had significantly more aortic events than females. More than half of the total number of dissections was in patients undiagnosed with MFS at the time of their event. This emphasizes that diagnosing MFS is lifesaving and improves mortality risk by reducing the risk of aorta dissection.
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Aortic events in a nationwide Marfan Syndrome cohort.
Clinical Research in Cardiology, 2016Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Pernille A. Gregersen, Niels Vejlstrup, John R. Østergaard, Claus Højbjerg Gravholt, Niels Holmark AndersenAbstract:Background Marfan Syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan Syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan Syndrome cohort.
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prevalence incidence and age at diagnosis in Marfan Syndrome
Orphanet Journal of Rare Diseases, 2015Co-Authors: Kristian A. Groth, Kirstine Stochholm, Hanne Hove, Kasper Kyhl, Niels Vejlstrup, John R. Østergaard, Lars Folkestad, Mette Gaustadnes, Niels Holmark AndersenAbstract:Background Marfan Syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan Syndrome.