Health Supervision for Children With Marfan Syndrome

Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.

• Publication year

  2013

• Venue

  Pediatrics

• Publication date

  2013-04-03

• Fields of study

  Medicine

• Identifiers
  DOI 10.1542/peds.2013-2063PMID 24081994
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetic Disorders and the Fetus: "Diagnosis, Prevention, And Treatment"

  2012cited by this paper
• Distal aortic and peripheral arterial aneurysms in patients with Marfan syndrome.

  2011cited by this paper
• Compromised cardiac function in exercising teenagers with pectus excavatum.

  2011cited by this paper
• Increasing severity of pectus excavatum is associated with reduced pulmonary function.

  2011cited by this paper
• CT of the hips in the investigation of protrusio acetabuli in Marfan syndrome. A case control study

  2011cited by this paper
• The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II.

  2011cited by this paper
• The revised Ghent nosology for the Marfan syndrome

  2010cited by this paper
• The diagnostic value of the facial features of Marfan syndrome

  2010cited by this paper
• Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

  2010cited by this paper
• Marfan syndrome. Part 2: treatment and management of patients

  2010cited by this paper
• Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

  2009cited by this paper
• Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

  2009cited by this paper
• Genetic Disorders and the Fetus

  2009cited by this paper
• Marfan Syndrome

  2009cited by this paper
• Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

  2009cited by this paper
• Pregnancy in Marfan Syndrome: Maternal and Fetal Risk and Recommendations for Patient Assessment and Management

  2009cited by this paper
• Acute-onset floaters and flashes: is this patient at risk for retinal detachment?

  2009cited by this paper
• Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years.

  2009cited by this paper
• The multidisciplinary approach to the Marfan patient.

  2008cited by this paper
• Is fatigue in Marfan syndrome related to orthostatic intolerance?

  2008cited by this paper
• Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.

  2008cited by this paper
• Determinants of quality of life in Marfan syndrome.

  2008cited by this paper
• Bethesda Conference #36 and the European Society of Cardiology Consensus Recommendations revisited a comparison of U.S. and European criteria for eligibility and disqualification of competitive athletes with cardiovascular abnormalities.

  2008cited by this paper
• Scoliotic curve patterns in patients with Marfan syndrome

  2008cited by this paper
• The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

  2008cited by this paper
• The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan’s syndrome

  2008cited by this paper
• FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

  2008cited by this paper
• Management of retinal detachment: a guide for non-ophthalmologists

  2008cited by this paper
• Marfan syndrome: clinical diagnosis and management

  2007cited by this paper
• Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

  2007cited by this paper
• Joint hypermobility.

  2007cited by this paper
• Fatigue, cognitive functioning and psychological distress in Marfan syndrome, a pilot study

  2007cited by this paper
• Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.

  2007cited by this paper
• Bone Mineral Density Determinations by Dual-Energy x-ray Absorptiometry in the Management of Patients with Marfan Syndrome—Some Factors Which Affect the Measurement

  2007cited by this paper
• Marfan’s syndrome and the heart

  2007cited by this paper
• Reimplantation valve-sparing aortic root replacement in Marfan syndrome using the Valsalva conduit: an intercontinental multicenter study.

  2007cited by this paper
• Challenges in the diagnosis of Marfan syndrome

  2006cited by this paper
• Cardiovascular management of marfan syndrome in the young

  2006cited by this paper
• Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

  2006cited by this paper
• Bone mineral density in Marfan syndrome. A large case-control study.

  2006cited by this paper
• Tall girls: the social shaping of a medical therapy.

  2006cited by this paper
• Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function.

  2006cited by this paper
• Pregnancy in Marfan syndrome after aortic root replacement: a case report and review of the literature.

  2006cited by this paper
• Obstetric complications in Marfan syndrome.

  2006cited by this paper
• Current concepts of ocular manifestations in Marfan syndrome.

  2006cited by this paper
• Characterization of the symptoms associated with dural ectasia in the Marfan patient

  2005cited by this paper
• Protrusio acetabuli.

  2005cited by this paper
• Recent progress towards a molecular understanding of Marfan syndrome

  2005cited by this paper
• Pregnancy and aortic root growth in the Marfan syndrome: a prospective study.

  2005cited by this paper
• Postural Headache in a Child With Marfan Syndrome

  2005cited by this paper
• Aortic root growth in men and women with the Marfan's syndrome.

  2005cited by this paper
• Surgical Treatment for Scoliosis in Marfan Syndrome

  2005cited by this paper
• Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent

  2005cited by this paper
• Anterior chamber intraocular lens (ACIOL) placement after pars plana lensectomy in pediatric Marfan syndrome.

  2005cited by this paper
• Marfan Syndrome in Europe

  2004cited by this paper
• Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

  2004cited by this paper
• Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

  2004cited by this paper
• Pulmonary function, working capacity and strength in young adults with Marfan syndrome.

  2003cited by this paper
• Assessment of bone mineral density in adults and children with Marfan syndrome

  2003cited by this paper
• Growth and maturation in Marfan syndrome.

  2002cited by this paper
• Aortic root replacement in 271 Marfan patients: a 24-year experience.

  2002cited by this paper
• Dural ectasia and back pain: review of the literature and case report.

  2002cited by this paper
• Bone mineral density in Marfan syndrome.

  2001cited by this paper
• Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome.

  2001cited by this paper
• Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome.

  1999cited by this paper
• Life expectancy in British Marfan syndrome populations

  1998cited by this paper
• Cardiac operations in children with Marfan's syndrome: indications and results.

  1997cited by this paper
• Life expectancy in the Marfan syndrome.

  1995cited by this paper
• Marfan syndrome. Long-term survival and complications after aortic aneurysm repair.

  1995cited by this paper
• The thoracolumbar spine in Marfan syndrome.

  1995cited by this paper
• Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome.

  1990cited by this paper
• Clinical Manifestations of the Marfan Syndrome

  1989cited by this paper
• Two-dimensional echocardiographic aortic root dimensions in normal children and adults.

  1989cited by this paper
• Surgical management of children and young adults with Marfan syndrome and pectus excavatum.

  1988cited by this paper
• Pulmonary disease in patients with Marfan syndrome.

  1984cited by this paper
• The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age.

  1983cited by this paper
• The eye in the Marfan syndrome.

  1982cited by this paper
• The eye in the Marfan syndrome.

  1981cited by this paper
• Protrusio acetabuli.

  1953cited by this paper

• Mitral Annular Disjunction is Associated with Ventricular Arrhythmias in Children with Marfan Syndrome.

  2025cites this paper
• Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain

  2024cites this paper
• Opšta anestezija kod adolescentkinje sa Marfanovim sindromom i dilatacijom aorte - prikaz slučaja (Marfanov sindrom - anesteziološka razmatranja)

  2024cites this paper
• Analyzing the safety and efficacy of pipeline embolization device in pediatric aneurysms: insight from a mul-ticenter cohort and pooled analysis

  2024cites this paper
• Conservative management of hand impairment in children and adolescents with heritable disorders of connective tissue: A scoping review

  2023cites this paper
• Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States

  2023cites this paper
• Chest Pain in Children

  2023cites this paper
• Thoracic and Thoracoabdominal Aneurysms: Etiology, Epidemiology, and Natural History.

  2022cites this paper
• A unique cardiovascular presentation of Marfan syndrome

  2022cites this paper
• Demystifying Spina Bifida Guidelines Using a Periodicity Schedule.

  2022cites this paper
• Pediatric Eye Evaluations Preferred Practice Pattern.

  2022cites this paper
• Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies

  2021cites this paper
• Cardioprotection in Duchenne muscular dystrophy.

  2021cites this paper
• Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

  2021cites this paper
• Bleeding Associated with Connective Tissue Disorders

  2021cites this paper
• Tele-Clinic Visits in Pediatric Patients with Marfan Syndrome using Parentally-Acquired Echo.

  2021cites this paper
• Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis

  2021cites this paper
• What hinders congenital ectopia lentis patients’ follow-up visits? A qualitative study

  2020cites this paper
• Great Vessels

  2020cites this paper
• FBN1 gene mutations in patients with congenital ectopia lentis caused by Marfan syndrome

  2020influential citation
• Families of people with Marfan syndrome. The relationship between the functioning of the family system and the life quality of the affected persons.

  2020cites this paper
• A Chance to Play is a Chance to Learn: Integrating Individuals with Physical Disabilities into Physical Education

  2020cites this paper
• Genetic screening in the family of a patient with connective tissue dysplasia syndrome and a new pathogenic variant of the FBN1 gene

  2020cites this paper
• Мутации в гене FBN1 у пациентов с врожденным подвывихом хрусталика при синдроме Марфана

  2020cites this paper
• Parenting a child with Marfan syndrome: Distress and everyday problems

  2020cites this paper
• Oral disorders in children with Prader-Willi syndrome: a case control study

  2020cites this paper
• Facilitating Physical Activity with Individuals with Marfan Syndrome

  2019cites this paper
• Trends in the off‐label use of β‐blockers in pediatric patients

  2019cites this paper
• Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs

  2019cites this paper
• Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: a 10-year single center experience.

  2019cites this paper
• MANAGEMENT OF YOUNG PATIENTS WITH MARFAN SYNDROME

  2019cites this paper
• Buschke–Ollendorff Syndrome, Marfan Syndrome and Osteogenesis Imperfecta

  2019cites this paper
• Genetic Disorders

  2019cites this paper
• Marfan syndrome in childhood: parents’ perspectives of the impact on daily functioning of children, parents and family; a qualitative study

  2019cites this paper
• MARFAN SYNDROME

  2018cites this paper
• Surgical outcome of scoliosis in Marfan syndrome: a case series report

  2018cites this paper
• The causes and consequences of pituitary gigantism

  2018cites this paper
• Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome: A Puzzle Nearing Its Solution.

  2018cites this paper
• Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis

  2018cites this paper
• Funkcjonowanie wzrokowe osoby z progresywną słabowzrocznością – studium indywidualnego przypadku

  2018cites this paper
• Literatur

  2018cites this paper
• Pediatric Eye Evaluations Preferred Practice Pattern®: I. Vision Screening in the Primary Care and Community Setting; II. Comprehensive Ophthalmic Examination.

  2018cites this paper
• Spontaneous pneumothorax in diffuse cystic lung diseases

  2017cites this paper
• Neonatal Marfan syndrome: Report of two cases.

  2017cites this paper
• A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team

  2017cites this paper
• Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders

  2017cites this paper
• Ocular Manifestations of Musculoskeletal Disorders

  2017cites this paper
• Screening Children for Familial Aortopathies: Tread With Caution.

  2016cites this paper
• The Child with Marfan Syndrome: A Paediatric Cardiology Approach

  2016cites this paper
• A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services

  2016cites this paper
• Ocular manifestations of genetic skin disorders.

  2016cites this paper
• The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

  2016cites this paper
• MicroRNAs as a marker of cardiovascular disease in Marfan syndrome and Marfan-related disorders

  2015influential citation
• When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children

  2015cites this paper
• Something Old, Something New: Using Family History and Genetic Testing to Diagnose and Manage Athletes with Inherited Cardiovascular Disease.

  2015cites this paper
• Something old, something new: Path dependence and path creation during the early stage of a project

  2015cites this paper
• Marfan syndrome and symptomatic dural ectasia: A case report and literature review

  2014cites this paper
• Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature

  2014cites this paper
• Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

  2013cites this paper
• Management of Children with Marfan Syndrome

  2013cites this paper
• Marfan syndrome teaching algorithm: does it make a difference?

  2013cites this paper
• Clinical report updates diagnostic criteria for Marfan syndrome

  2013cites this paper
• Congenital Malformation Syndromes

  2012cites this paper
• The diagnosis and treatment of myocardial and arterial dysfunction in Marfan Syndrome.

  2011cites this paper