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Return to: Twitter Facebook Linkedin Reddit Get Citation Citation AMA Citation Marfan Syndrome. In: Papadakis MA, McPhee SJ. Papadakis M.A., McPhee S.J. Eds. Maxine A. Papadakis, and Stephen J. McPhee.eds. Quick Medical Diagnosis & Treatment 2017 New York, NY: McGraw-Hill; . http://accessmedicine.mhmedical.com/content.aspx?bookid=2033§ionid=152412048. Accessed January 24, 2018. MLA Citation . "Marfan Syndrome." Quick Medical Diagnosis & Treatment 2017 Papadakis MA, McPhee SJ. Papadakis M.A., McPhee S.J. Eds. Maxine A. Papadakis, and Stephen J. McPhee. New York, NY: McGraw-Hill, , http://accessmedicine.mhmedical.com/content.aspx?bookid=2033§ionid=152412048. Download citation file: RIS (Zotero) EndNote BibTex Medlars ProCite RefWorks Reference Manager Mendeley © Copyright Tools Search Book Top Return Clip Autosuggest Results + Key Features Print Section ++ ++ Essentials of Diagnosis ++ Disproportionately tall stature, thoracic deformity, and joint laxity or contractures Ectopia lentis and myopia Aortic root dilation and dissection Mitral valve prolapse Mutation in FBN1, the gene encoding fibrillin-1 ++ General Considerations ++ Autosomal dominant pattern of inheritance A systemic connective tissue disease characterized by Abnormalities of the skeletal, ocular, and cardiovascular systems Spontaneous pneumothorax Dural ectasia Striae atrophicae Of most concern is disease of the ascending aorta, which is associated with a dilated aortic root Histology of the aorta shows diffuse medial abnormalities Aortic and mitral valve leaflets are also abnormal Mitral regurgitation may be present as well, often with elongated chordae tendinae, which on occasion may rupture + Clinical Findings Print Section ++ ++ Symptoms and Signs ++ Wide variability in clinical presentation Affected patients typically are tall, with particularly long arms, legs, and digits (arachnodactyly) Commonly, scoliosis and pectus excavatum Ectopia lentis, severe myopia, and retinal detachment Mitral valve regurgitation occur often from elongated chordae tendineae, which on occasion may rupture Mitral valve prolapse in about 85% Ascending aortic involvement produces a dilated aortic root, aortic regurgitation, and aortic dissection Spontaneous pneumothorax Dural ectasia Striae atrophicae ++ Differential Diagnosis ++ Tall stature (normal) Homocystinuria (with lens dislocation) as a result of cystathionine β-synthase deficiency Aortic root disease resulting from other cause, eg, ankylosing spondylitis, syphilis, temporal (giant cell) arteritis, Takayasu arteritis, familial aortic aneurysm, bicuspid aortic valve Ehlers-Danlos syndrome Loeys-Dietz syndrome MASS phenotype Idiopathic mitral valve prolapse + Diagnosis Print Section ++ ++ Laboratory Tests ++ No simple laboratory test DNA analysis can detect mutations in the fibrillin gene (FBN1) on chromosome 15 Clinical diagnosis based on family history, detailed ophthalmologic examination (including slit lamp), echocardiography, and physical examination + Treatment Print Section ++ ++ Medications ++ Long-term β-adrenergic blockade (eg, atenolol, 1–2 mg/kg orally daily) retards the rate of aortic dilation The largest of a dozen clinical trials found no difference in benefit when young persons were treated with optimally titrated doses of atenolol or losartan ++ Surgery ++ Prophylactic replacement of the aortic root (and, if necessary, aortic valve) when the diameter reaches 45–50 mm (normal: < 40 mm) prolongs life Because of a heightened risk for aortic dissection in the peripartum and postpartum periods, women with an aortic root dimension > 40 mm should consider prophylactic, valve-sparing aortic repair before undertaking a pregnancy Annual orthopedic consultation if moderately severe scoliosis present ++ Therapeutic Procedures ++ Regular ophthalmologic surveillance to correct visual acuity and thus prevent amblyopia Restriction of vigorous physical exertion + Outcome Print Section ++ ++ Follow-Up ++ Echocardiography at least annually to monitor aortic root diameter and aortic and mitral valve function ++ Prognosis ++ Untreated, Marfan syndrome patients commonly die in the fourth or fifth decade from aortic dissection or heart failure secondary to aortic or mitral regurgitation Life expectancy has increased by several decades because of Earlier diagnosis Lifestyle modifications, β-Adrenergic blockade Prophylactic aortic and mitral valve surgery ++ Prevention ++ Prenatal and presymptomatic diagnosis for patients in whom a molecular defect in FBN1 has been found and for families in whom linkage analysis using polymorphic markers around the fibrillin gene can be performed ++ When to Refer ++ For detailed ophthalmologic examination For at least annual cardiologic evaluation For moderate scoliosis For pregnancy in a woman with Marfan syndrome For genetic counseling ++ When to Admit ++ Presence of severe or unusual chest pain so that pneumothorax and aortic dissection can be excluded + References Print Section ++ + +Bradley TJ et al. The expanding clinical spectrum of extracardiovascular and cardiovascular manifestations of heritable thoracic aortic aneurysm and dissection. Can J Cardiol. 2016 Jan;32(1):86–99. [PubMed: 26724513] CrossRef+ +David TE et al. Long-term results of aortic root repair using the reimplantation technique. J Thorac Cardiovasc Surg. 2013 Mar;145(3 Suppl):S22–5. [PubMed: 23260437] CrossRef+ +Lacro RV et al; Pediatric Heart Network Investigators. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med. 2014 Nov 27;371(22):2061–71. [PubMed: 25405392] CrossRef+ +Loeys BL et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476–85. [PubMed: 20591885] CrossRef+ +Price J et al. Long-term outcomes of aortic root operations for Marfan syndrome: a comparison of Bentall versus aortic valve-sparing procedures. J Thorac Cardiovasc Surg. 2016 Feb;151(2):330–8. [PubMed: 26704057] CrossRef+ +Pyeritz RE. Evaluation of the adolescent or adult with some features of Marfan syndrome. Genet Med. 2012 Jan;14(1):171–7. [PubMed: 22237449] CrossRef+ +Pyeritz RE. Marfan syndrome and related disorders. In: Rimoin DL et al (editors). Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. Philadelphia: Churchill Livingstone, 2007.