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[Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome]

Juan Pablo Ricarte-Bratti1, Layla Florencia Martínez2, Julio Oscar Emilio Bono3

  • 1Sanatorio Allende. jpricartebratti@gmail.com.

Revista De La Facultad De Ciencias Medicas (Cordoba, Argentina)
|December 21, 2022
PubMed

Insights

Marfan syndrome is a genetic disorder affecting multiple body systems, often diagnosed in early childhood. This case report details a patient with extreme Marfan syndrome, highlighting its complex manifestations.

Area of Science:

  • Genetics
  • Human Pathology
  • Molecular Biology

Context:

  • Marfan syndrome is an autosomal dominant disorder impacting connective tissues.
  • Genetic studies link Marfan syndrome to defects in the extracellular microfibril on chromosome 15q15-q21.3.
  • Early diagnosis is crucial due to the syndrome's severity.

Purpose:

  • To present a case of extreme Marfan syndrome.
  • To illustrate the multifaceted clinical presentation of Marfan syndrome.
  • To contribute to the understanding of Marfan syndrome's variability.

Summary:

  • A patient with extreme Marfan syndrome, exhibiting characteristic signs and symptoms, is described.
  • The case underscores the genetic basis and systemic effects of Marfan syndrome.
  • Diagnostic challenges and the need for multidisciplinary care are implied.

Impact:

  • Enhances understanding of extreme Marfan syndrome phenotypes.
  • Provides a clinical example for medical education and research.
  • Reinforces the importance of early diagnosis and comprehensive management strategies for Marfan syndrome.
Keywords:
Marfan syndromeaortic aneurysmaortic regurgitation.

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