Abstract
In my personal experience, when a patient, whether child or adult, is referred with the possibility of a diagnosis of Marfan syndrome, they are assessed after echocardiogram, from a cardiovascular genetic point of view using the following approach.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Grahame R, Bird HA, Child A. The revised (Beighton, 1998) criteria for diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol. 2000;27:1777–9.
Beighton PH, Solomon I, Soskoline CI. Articular mobility in the African population. Ann Rheum Dis. 1973;32:413–7.
Takeda N, Morita H, Fujita D, et al. Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: case report and review of literature. Am J Med Genet A. 2015;167A:2382–7.
Türkmen S, Şahin S, Koçer N, et al. Neuroimaging and clinical characterization of Sotos syndrome. Genet Couns. 2015;26(1):1–12.
Chandra A, Patel D, Aragon-Martin JA, et al. The revised Ghent nosology; reclassifying isolated ectopia lentis. Clin Genet. 2015;87(3):284–7.
Zhang L, Lai YH, Capasso JE, et al. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. Am J Med Genet A. 2015;167(6):1365–8. doi:10.1002/ajmg.a.37035.
Patten SA, Margaritte-Jeannin P, Moldovan F, et al. Functional variants of POC5 identified in patients with idiopathic scoliosis. J Clin Invest. 2015;125(3):1124–8.
Hafidi Z, Berradi S, Handor H, et al. Atypical presentation of ectopia lentis in homocystinuria. J Pediatr. 2015;166(4):1091.
von Kodolitsch Y, De Backer J, Schüler H, et al. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 2015;8:137–55.
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85.
Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. J Am Coll Cardiol. 2010;55(14):e27–129.
National Marfan Foundation. www.marfan.org/resources/professionals/management.
Erbel R, Aboyans V, Boileau C, et al. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases the task force for the diagnosis and treatment of aortic diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2873–926.
Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007;81(3):454–66.
Faivre L, Masurel-Paulet A, Collod-Beroud G, et al. 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. Pediatrics. 2009;123(1):391–8.
Collod-Beroud G, Le Bourdelles S, Ades L, et al. The UMD-FBN1 mutations database. Hum Mutat. 2003;22:199–208. www.umd.be/FBN1/.
Milewicz DM, Regalado E. Thoracic aortic aneurysms and aortic dissections. www.ncbi.nlm.nih.gov/books/NBK1120/.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer-Verlag London
About this chapter
Cite this chapter
Child, A.H. (2016). Diagnosis and Management (Summary). In: Child, A. (eds) Diagnosis and Management of Marfan Syndrome. Springer, London. https://doi.org/10.1007/978-1-4471-5442-6_2
Download citation
DOI: https://doi.org/10.1007/978-1-4471-5442-6_2
Published:
Publisher Name: Springer, London
Print ISBN: 978-1-4471-5441-9
Online ISBN: 978-1-4471-5442-6
eBook Packages: MedicineMedicine (R0)