Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report

Background: Marfan syndrome is a systemic disorder with weakness of connective tissue, inherited in an autosomal dominant patterna and having variable penetrance. There are many people with moderately expressed symptoms; but their connective tissue has subnormal tensile strength. Objective: To draw attention to people with moderate marfanoid features, who should be examined and given adequate recommendations concerning occupational choice and procreation. Clinical Case: We report a case of a 68-year-old male with moderately expressed Marfan syndrome that was diagnosed at the age of over 30 years, when asymmetry of the inguinal area was noticed. Before that the patient had served in the army and repeatedly worked in construction, altogether about 5 years. These activities included lifting of heavy weights. At the age of 66 years the patient developed prolapse of the lower abdominal wall and femoral hernia with foot edema on the same left side. No therapeutic interventions apart from bearing a bandage have been effectuated so far. Conclusion: Individuals with Marfan syndrome must avoid heavy weight lifting. Genetic counseling should be applied more broadly among individuals at risk.

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Publication Details

Journal
Journal of Clinical Case Studies
Published
2025-01-01
DOI
https://doi.org/10.16966/2471-4925.279
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
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article

Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report

Susan J. Robertson, S Jergin
Journal of Clinical Case Studies
Connective tissue disorders research
article

Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report

Susan J. Robertson, S Jergin
article en

Abstract

Background: Marfan syndrome is a systemic disorder with weakness of connective tissue, inherited in an autosomal dominant patterna and having variable penetrance. There are many people with moderately expressed symptoms; but their connective tissue has subnormal tensile strength. Objective: To draw attention to people with moderate marfanoid features, who should be examined and given adequate recommendations concerning occupational choice and procreation. Clinical Case: We report a case of a 68-year-old male with moderately expressed Marfan syndrome that was diagnosed at the age of over 30 years, when asymmetry of the inguinal area was noticed. Before that the patient had served in the army and repeatedly worked in construction, altogether about 5 years. These activities included lifting of heavy weights. At the age of 66 years the patient developed prolapse of the lower abdominal wall and femoral hernia with foot edema on the same left side. No therapeutic interventions apart from bearing a bandage have been effectuated so far. Conclusion: Individuals with Marfan syndrome must avoid heavy weight lifting. Genetic counseling should be applied more broadly among individuals at risk.

Journal of Clinical Case StudiesVol. 10(2)
Openalex Percentile: Top 92%
Connective tissue disorders research
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