Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by complex manifestations involving musculoskeletal, cardiovascular, and ocular systems. The usual presentation for suspecting diagnosis in an individual with aortic root disease is tall stature in addition to other features that fulfill Ghent criteria. On the other hand, we report a case of a 30-year-old male patient with markedly dilated aortic root fulfilling diagnoses of MFS despite being of relatively short stature.
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| http://dx.doi.org/10.7759/cureus.76583 | DOI Listing |
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