Best Practice Case Studies-Marfan Syndrome: Visual Diagnosis and Early Identification

Pdf Summary

The case study discusses a 14-year-old boy diagnosed with Marfan Syndrome (MFS), a genetic disorder affecting connective tissue, caused by a mutation in the FBN1 gene. MFS is characterized by tall stature, long limbs, and various systemic involvements, including cardiovascular issues that can lead to premature death if untreated.<br /><br />The adolescent, with tall stature and long arms, drew attention from his basketball coach. However, a family history of sudden deaths from "heart problems" coupled with observed physical symptoms, such as long fingers and toes, a high-arched palate, myopia, and pigeon chest (pectus carinatum), raised suspicion of MFS. Initial cardiac screenings showed no immediate danger, but a dislocated lens confirmed ocular involvement, indicative of MFS.<br /><br />Diagnosis followed the Ghent criteria, focusing on systemic features and genetic testing. Genetic analysis revealed a nonsense mutation in the FBN1 gene, confirming MFS. Early diagnosis allowed for proactive management, including lifestyle modifications and medication with a beta-blocker to slow aortic root dilation. Cardiac surgery was performed at the age of 34 to prevent an aortic aneurysm. Genetic counseling helped the patient and his wife decide to use donor sperm, preventing MFS transmission to their children.<br /><br />Ongoing management requires a multidisciplinary approach with regular monitoring of heart and eye conditions, and counseling against high-impact sports to mitigate aortic dissection risk. The case underscores the importance of early visual diagnosis and genetic testing to extend life expectancy and improve quality of life. Recent advances suggest treatments targeting the TGFB pathway may offer future prospects for altering disease progression. Education and support for families are critical to managing lifestyle changes associated with the disorder.

Meta Tag

Edition 3rd Edition

Related Case 3rd Edition, CASE 49

Topic Rheumatology

Keywords

3rd Edition, CASE 49

3rd Edition

Rheumatology

Marfan Syndrome

FBN1 gene

connective tissue disorder

tall stature

cardiovascular issues

Ghent criteria

beta-blocker

genetic counseling

aortic aneurysm

TGFB pathway