Atypical Marfan Syndrome: Diagnostic Challenges and the Importance of a Multidisciplinary Approach

Nugraha Wahyu Cahyana; Cicih Komariah; Heni Fatmawati; Ida Srisurani Wiji Astuti

doi:10.59890/ijist.v3i12.247

Authors

Nugraha Wahyu Cahyana Universitas Jember
Cicih Komariah Universitas Jember
Heni Fatmawati Universitas Jember
Ida Srisurani Wiji Astuti Universitas Jember

DOI:

https://doi.org/10.59890/ijist.v3i12.247

Keywords:

Marfan Syndrome, FBN1, Diagnosis, Multidisciplinary Management

Abstract

Marfan syndrome is an autosomal dominant inherited connective tissue disorder, most commonly caused by mutations in the FBN1 gene. Its clinical manifestations involve the musculoskeletal, cardiovascular, and ocular systems. We report a challenging case of Marfan syndrome with atypical features and delayed diagnosis, involving a 27-year-old male who initially presented with atypical clinical features and was later diagnosed with Marfan syndrome through genetic testing. This case highlights the diagnostic challenges, the importance of comprehensive evaluation, and the role of multidisciplinary management in preventing fatal complications such as aortic dissection.

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