PPM - Evaluation of the Individual with Possible Marfan Syndrome-Checklist

Checklist

Pdf Summary

This document is a comprehensive checklist for the clinical evaluation of individuals suspected of having Marfan syndrome, a genetic connective tissue disorder. It outlines a detailed, stepwise approach to patient history, examination, diagnosis, genetic testing, and ongoing management.<br /><br />Key components include constructing a three-generation family pedigree focusing on signs of Marfan syndrome or related connective tissue disorders, and obtaining relevant medical records such as echocardiograms and genetic test results. The medical history should be detailed, emphasizing features suggestive of Marfan or overlapping disorders like vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome, and homocystinuria.<br /><br />Clinical assessments involve cardiac echocardiography to evaluate aortic dimensions and calculate z-scores, along with ophthalmologic exams to check for ectopia lentis and myopia. A thorough physical exam documents systemic features using a standardized scoring tool that counts signs like wrist and thumb signs, chest deformities, scoliosis, facial features, and skin striae. Anthropometric ratios such as arm span to height and body segment ratios are recorded when possible.<br /><br />If clinical suspicion remains high or aortic dilation is present, FBN1 gene testing is recommended for confirmation. If positive or clinical criteria are met, discussions about inheritance patterns and familial risk are documented. If criteria for Marfan syndrome are not fulfilled, differential diagnoses like Loeys-Dietz syndrome and nonsyndromic aortopathy should be considered.<br /><br />Confirmed Marfan patients require ongoing cardiology follow-up with serial echocardiograms to monitor aortic size, surveillance of scoliosis development, and counseling on activity restrictions to reduce complication risks. Pharmacologic treatment and referrals to support groups are advised. For reproductive-age patients with pathogenic variants, reproductive counseling and pregnancy-related care planning are essential.<br /><br />This checklist ensures comprehensive and consistent evaluation, diagnosis, and management of individuals with possible Marfan syndrome, supporting early detection and optimal patient care.

Keywords

Marfan syndrome

genetic connective tissue disorder

clinical evaluation checklist

family pedigree analysis

echocardiography

FBN1 gene testing

systemic feature scoring

differential diagnosis

cardiology follow-up

reproductive counseling