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PPM –Evaluation of the individual with Suspected M ...
Marfan Syndrome Checklist
Marfan Syndrome Checklist
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The evaluation of an individual suspected to have Marfan syndrome involves several key steps. These include obtaining a three-generation pedigree to identify any family history of connective tissue disorders and features suggestive of Marfan syndrome. The patient's medical history should be documented with attention to symptoms related to Marfan syndrome and other connective tissue disorders.<br /><br />Specific examinations are recommended, including a cardiac echo to assess the aortic sinuses and aortic root, and an ophthalmologic examination to evaluate for myopia. Physical examinations should also be conducted, paying attention to features such as wrist and thumb signs, pectus deformity, kyphosis/scoliosis, and facial features.<br /><br />Measurements like the upper to lower body segment ratio and arm span to height ratio may provide additional information. Adjunctive imaging may be considered if appropriate, such as dural ectasia or protrusio acetabuli. The patient's total score should be calculated using the Systemic Scoring Tool and documented.<br /><br />Genetic testing, specifically FBN1 sequencing/del/dup analysis, should be recommended or documented. If a pathogenic variant is found, or if the patient meets the clinical criteria for Marfan syndrome, discussion of inheritance pattern and the risk to family members should be documented.<br /><br />If the patient does not meet the criteria for Marfan syndrome, alternative diagnoses should be considered and documented. Ongoing cardiology follow-up with regular echocardiograms should be recommended for patients with aortic enlargement or a diagnosis of Marfan syndrome. Monitoring for the development or progression of scoliosis is also recommended.<br /><br />Discussion of cardiology referral and consideration of beta-blocker therapy or other pharmacologic therapy (such as losartan) should be documented. Patients should be advised to avoid high-risk activities/procedures and provided with referrals to support groups and informational resources.
Keywords
Marfan syndrome
connective tissue disorders
pedigree
cardiac echo
ophthalmologic examination
genetic testing
scoliosis monitoring
beta-blocker therapy
high-risk activities
support groups
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