A Forme Fruste of Marfan Syndrome: A Case Report

Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by manifestations in the musculoskeletal system (joint laxity, scoliosis), the cardiovascular system (aortic dilation), and the ocular system (ectopic lens). We report a cas...

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Autores principales: Alsheikh, Nejood, Hawsawi, Samira A, AlGhamdi, Abeer, Alkhwaiter, Lolo, Alsulimani, Aseel, Suliman, Ihab
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Cardiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730431/
https://www.ncbi.nlm.nih.gov/pubmed/36505128
http://dx.doi.org/10.7759/cureus.31231
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author Alsheikh, Nejood
Hawsawi, Samira A
AlGhamdi, Abeer
Alkhwaiter, Lolo
Alsulimani, Aseel
Suliman, Ihab
author_facet Alsheikh, Nejood
Hawsawi, Samira A
AlGhamdi, Abeer
Alkhwaiter, Lolo
Alsulimani, Aseel
Suliman, Ihab
author_sort Alsheikh, Nejood
collection PubMed
description Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by manifestations in the musculoskeletal system (joint laxity, scoliosis), the cardiovascular system (aortic dilation), and the ocular system (ectopic lens). We report a case of a 37-year-old male with a genetically confirmed MFS. His mother and brother were also both confirmed cases of MFS. While the patient exhibited the characteristic physical features of MFS in general appearance, he did not show any cardiac manifestations of the disease. This report highlights a case of the familial occurrence of MFS and emphasizes the importance of recognizing the forme fruste of MFS.
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spelling pubmed-97304312022-12-09 A Forme Fruste of Marfan Syndrome: A Case Report Alsheikh, Nejood Hawsawi, Samira A AlGhamdi, Abeer Alkhwaiter, Lolo Alsulimani, Aseel Suliman, Ihab Cureus Cardiology Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by manifestations in the musculoskeletal system (joint laxity, scoliosis), the cardiovascular system (aortic dilation), and the ocular system (ectopic lens). We report a case of a 37-year-old male with a genetically confirmed MFS. His mother and brother were also both confirmed cases of MFS. While the patient exhibited the characteristic physical features of MFS in general appearance, he did not show any cardiac manifestations of the disease. This report highlights a case of the familial occurrence of MFS and emphasizes the importance of recognizing the forme fruste of MFS. Cureus 2022-11-08 /pmc/articles/PMC9730431/ /pubmed/36505128 http://dx.doi.org/10.7759/cureus.31231 Text en Copyright © 2022, Alsheikh et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Cardiology
Alsheikh, Nejood
Hawsawi, Samira A
AlGhamdi, Abeer
Alkhwaiter, Lolo
Alsulimani, Aseel
Suliman, Ihab
A Forme Fruste of Marfan Syndrome: A Case Report
title A Forme Fruste of Marfan Syndrome: A Case Report
title_full A Forme Fruste of Marfan Syndrome: A Case Report
title_fullStr A Forme Fruste of Marfan Syndrome: A Case Report
title_full_unstemmed A Forme Fruste of Marfan Syndrome: A Case Report
title_short A Forme Fruste of Marfan Syndrome: A Case Report
title_sort forme fruste of marfan syndrome: a case report
topic Cardiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730431/
https://www.ncbi.nlm.nih.gov/pubmed/36505128
http://dx.doi.org/10.7759/cureus.31231
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