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Revista Portuguesa de Cardiologia Apr 2020Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the... (Review)
Review
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-β signaling, in addition to impairing tissue integrity. The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagnosis of Marfan syndrome is made according to the revised Ghent nosology. Early identification and appropriate management are critical for patients with Marfan syndrome, who are prone to the life-threatening cardiovascular complications of aortic aneurysms and aortic dissection. The standard treatment includes prophylactic beta-blockers in order to slow down dilation of the ascending aorta, and prophylactic aortic surgery. The success of current medical and surgical treatment of aortic disease in Marfan syndrome has substantially improved mean life expectancy, extending it above 72 years. This review aims to provide an overview of this hereditary disorder.
Topics: Adrenergic beta-Antagonists; Aortic Dissection; Animals; Aorta; Aortic Aneurysm; Fibrillin-1; Marfan Syndrome; Mutation; Transforming Growth Factor beta
PubMed: 32439107
DOI: 10.1016/j.repc.2019.09.008 -
Advances in Experimental Medicine and... 2021Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While clinically this disease... (Review)
Review
Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While clinically this disease manifests in many different ways, the most life-threatening manifestations are related to cardiovascular complications including mitral valve prolapse, aortic insufficiency, dilatation of the aortic root, and aortic dissection. In the past 30 years, research efforts have not only identified the genetic locus responsible but have begun to elucidate the molecular pathogenesis underlying this disorder, allowing for the development of seemingly rational therapeutic strategies for treating affected individuals. In spite of these advancements, the cardiovascular complications still remain as the most life-threatening clinical manifestations. The present chapter will focus on the pathophysiology and clinical treatment of Marfan syndrome, providing an updated overview of the recent advancements in molecular genetics research and clinical trials, with an emphasis on how this information can focus future efforts toward finding betters ways to detect, diagnose, and treat this devastating condition.
Topics: Aortic Dissection; Aorta; Fibrillin-1; Humans; Marfan Syndrome; Transforming Growth Factor beta
PubMed: 34807420
DOI: 10.1007/978-3-030-80614-9_8 -
Sao Paulo Medical Journal = Revista... Dec 2010Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder... (Review)
Review
Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.
Topics: Humans; Marfan Syndrome
PubMed: 21308160
DOI: 10.1590/s1516-31802010000600009 -
Nursing Apr 2024This article provides a comprehensive review of Marfan Syndrome (MFS), covering its epidemiology, etiology, clinical presentations, diagnostics, complications, and... (Review)
Review
This article provides a comprehensive review of Marfan Syndrome (MFS), covering its epidemiology, etiology, clinical presentations, diagnostics, complications, and treatment modalities. The Ghent II Nosology of MFS criteria are crucial in MFS diagnosis, guiding clinicians in identifying high-risk patients. Nursing implications underscore the importance of screenings, assessments, and close follow-ups to optimize the continuum of care for individuals with MFS.
Topics: Humans; Marfan Syndrome
PubMed: 38517496
DOI: 10.1097/01.NURSE.0001007604.09204.9a -
Journal of Medical Genetics Jul 2010The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition...
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 cause psychosocial burden. 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. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.
Topics: Aortic Aneurysm; Child; Child, Preschool; Decision Support Techniques; Diagnosis, Differential; Disease Management; Ectopia Lentis; Fibrillin-1; Fibrillins; Humans; Infant; Marfan Syndrome; Microfilament Proteins; Myopia
PubMed: 20591885
DOI: 10.1136/jmg.2009.072785 -
Nature Reviews. Disease Primers Sep 2021
Topics: Humans; Marfan Syndrome
PubMed: 34475408
DOI: 10.1038/s41572-021-00304-y -
Current Rheumatology Reports Nov 2021Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations... (Review)
Review
PURPOSE OF REVIEW
Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5-10,000 (Chiu et al. Mayo Clin Proc. 89(1):34-42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476-85, 4).
RECENT FINDINGS
The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30-50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149-58, 147, Murdoch et al. N Engl J Med. 286(15):804-8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308-1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the "systemic features score" (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome.
Topics: Cardiovascular Diseases; Humans; Marfan Syndrome; Quality of Life
PubMed: 34825999
DOI: 10.1007/s11926-021-01045-3 -
Radiologic Technology 2007Marfan syndrome is a heritable disorder of the connective tissue that affects the cardiovascular, skeletal and ocular systems, and often involves the skin, nervous... (Review)
Review
Marfan syndrome is a heritable disorder of the connective tissue that affects the cardiovascular, skeletal and ocular systems, and often involves the skin, nervous system and lungs. Historically, a person with Marfan syndrome had a poor prognosis due to the cardiovascular effects of this disorder. The life expectancy has improved dramatically over the past 30 years for individuals with Marfan syndrome because of aggressive medical and molecular research and advances in surgical technology. This article discusses the history, genetics, manifestations, diagnosis and treatment of Marfan syndrome.
Topics: Diagnostic Imaging; Humans; Marfan Syndrome; Practice Guidelines as Topic; Practice Patterns, Physicians'
PubMed: 17242442
DOI: No ID Found -
Zhongguo Dang Dai Er Ke Za Zhi =... Jul 2022Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by gene mutation and often has different... (Review)
Review
Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
Topics: Fibrillin-1; Humans; Infant, Newborn; Marfan Syndrome; Mutation
PubMed: 35894201
DOI: 10.7499/j.issn.1008-8830.2203099 -
The Journal of the American Academy of... Sep 2017Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all... (Review)
Review
Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.
Topics: Humans; Marfan Syndrome; Musculoskeletal Abnormalities; Musculoskeletal Pain; Phenotype
PubMed: 28837453
DOI: 10.5435/JAAOS-D-16-00143