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Congenital Heart Disease Jul 2017Marfan syndrome is a multisystemic genetic condition affecting connective tissue. It carries a reduced life expectancy, largely dependent on cardiovascular... (Review)
Review
Marfan syndrome is a multisystemic genetic condition affecting connective tissue. It carries a reduced life expectancy, largely dependent on cardiovascular complications. More common cardiac manifestations such as aortic dissection and aortic valve incompetence have been widely documented in the literature. Mitral valve prolapse (MVP), however, has remained poorly documented. This article aims at exploring the existing literature on the pathophysiology and diagnosis of MVP in patients with Marfan syndrome, defining its current management and outlining the future developments surrounding it.
Topics: Diagnostic Imaging; Humans; Marfan Syndrome; Mitral Valve Prolapse
PubMed: 28580713
DOI: 10.1111/chd.12467 -
Current Problems in Cardiology Jan 2008Marfan syndrome (MFS) is the most common inherited disorder of connective tissue that affects multiple organ systems. This autosomal-dominant condition has an incidence... (Review)
Review
Marfan syndrome (MFS) is the most common inherited disorder of connective tissue that affects multiple organ systems. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic testing is available, the diagnosis is still primarily made using the Ghent criteria. Early identification and appropriate management is critical for patients with MFS who are prone to the life-threatening cardiovascular complications of aortic dissection and rupture. Advances in the understanding of the cause of MFS, early recognition of the disorder, and subsequent institution of medical and surgical therapy has resulted in dramatic improvement in the prognosis of this patient population over the past few decades. Beta-blockers have been demonstrated to slow aortic growth and thus delay the time to aortic surgery. Operative intervention has markedly changed the prognosis of patients with MFS and can be safely performed on an elective basis. Identification of presymptomatic patients is critical to reduce the frequency of catastrophic aortic events.
Topics: Adolescent; Adult; Bone and Bones; Cardiac Surgical Procedures; Cardiovascular Agents; Cardiovascular Diseases; Child; Echocardiography; Female; Humans; Lens Subluxation; Magnetic Resonance Imaging; Male; Marfan Syndrome; Pregnancy; Quality of Life; Stereotyping; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 18155514
DOI: 10.1016/j.cpcardiol.2007.10.001 -
Dimensions of Critical Care Nursing :... 2000Cardiac complications of Marfan syndrome can be fatal. This article reviews the assessment of a patient with this hereditary disorder, complications and their treatment,... (Review)
Review
Cardiac complications of Marfan syndrome can be fatal. This article reviews the assessment of a patient with this hereditary disorder, complications and their treatment, and nursing care.
Topics: Dilatation, Pathologic; Heart Diseases; Humans; Marfan Syndrome
PubMed: 11998154
DOI: 10.1097/00003465-200019040-00006 -
Journal of the American Heart... Oct 2020
Topics: Androgens; Animals; Aortic Aneurysm, Thoracic; Fibrillin-1; Male; Marfan Syndrome; Mice; Transforming Growth Factor beta
PubMed: 33059494
DOI: 10.1161/JAHA.120.018814 -
Nederlands Tijdschrift Voor... Dec 2013Marfan syndrome is a genetic disorder of the connective tissue caused by mutations in FBN1 gene. There are approximately 2-3,000 Marfan patients in The Netherlands. It... (Review)
Review
Marfan syndrome is a genetic disorder of the connective tissue caused by mutations in FBN1 gene. There are approximately 2-3,000 Marfan patients in The Netherlands. It has a broad clinical spectrum with features in most organ systems. Aortic root aneurysm is the most important clinical problem in these patients as it is progressive and leads to dissection and rupture if untreated. Endocarditis prophylaxis is indicated in all Marfan patients with aortic root aneurysm and operated patients. Timely diagnosis and specialized patient care are essential for the prognosis of this disease.
Topics: Aortic Aneurysm; Humans; Marfan Syndrome; Mutation; Prognosis
PubMed: 24555249
DOI: 10.5177/ntvt.2013.12.13108 -
The Israel Medical Association Journal... Mar 2008
Review
Topics: Fibrillins; Humans; Marfan Syndrome; Microfilament Proteins
PubMed: 18494226
DOI: No ID Found -
BMJ (Clinical Research Ed.) Dec 1991
Topics: Famous Persons; Fibrillins; History, 19th Century; Humans; Marfan Syndrome; Microfilament Proteins; United States
PubMed: 1773142
DOI: 10.1136/bmj.303.6815.1414 -
Current Opinion in Genetics &... Jun 2007Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major... (Review)
Review
Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major constituent of extracellular microfibrils. Mouse models of Marfan syndrome have revealed that fibrillin-1 mutations perturb local TGFbeta signaling, in addition to impairing tissue integrity. This discovery has led to the identification of a new syndrome with overlapping Marfan syndrome-like manifestations that is caused by mutations in TGFbeta receptor types I and II. It has also prompted the idea that TGFbeta antagonism will be a productive treatment strategy in Marfan syndrome and perhaps in other related disorders. More generally, these studies have established that Marfan syndrome is part of a group of developmental disorders with broad and complex effects on morphogenesis, homeostasis and organ function.
Topics: Animals; Connective Tissue; Gene Expression Regulation; Humans; Marfan Syndrome; Microfilament Proteins; Signal Transduction; Transforming Growth Factor beta
PubMed: 17467262
DOI: 10.1016/j.gde.2007.04.006 -
Progress in Cardiovascular Diseases 1973
Review
Topics: Adolescent; Animals; Aortic Aneurysm; Bone and Bones; Cardiovascular System; Child, Preschool; Electrocardiography; Female; Fingers; Foot Deformities, Congenital; Head; Humans; Male; Marfan Syndrome; Methandrostenolone; Prognosis; Rats; Skin Manifestations; Thumb; Wrist
PubMed: 4592844
DOI: 10.1016/s0033-0620(73)80013-1 -
European Journal of Human Genetics :... Jul 2007Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical... (Review)
Review
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features is age dependent, so the nosology must be used with caution in children. Molecular testing may be helpful in this context. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys-Dietz syndrome, although it may help identify families for further diagnostic evaluation because they do not fulfill the nosology, despite a history of aneurysm. Prophylactic medical (eg beta-blockade) and surgical intervention is important in reducing the cardiovascular complications of Marfan syndrome. Musculoskeletal symptoms are common, although the pathophysiology is less clear--for example, the correlation between dural ectasia and back pain is uncertain. Symptoms in other systems require specialist review such as ophthalmology assessment of refractive errors and ectopia lentis. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, particularly if the aortic root exceeds 4 cm at the start of pregnancy. High-intensity static exercise should be discouraged although low-moderate intensity dynamic exercise may be beneficial. The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability.
Topics: Adolescent; Adult; Algorithms; Cardiovascular Diseases; Child; Child, Preschool; Eye Diseases; Female; Fibrillins; Humans; Infant, Newborn; Male; Marfan Syndrome; Microfilament Proteins; Pregnancy; Pregnancy Complications
PubMed: 17487218
DOI: 10.1038/sj.ejhg.5201851