Marfan’S Syndrome. A Case Presentation and Review

Authors

  • David Loja Oropeza Departamento de Medicina, Hospital Nacional Arzobispo Loayza, Lima, Perú
  • Maricela Vilca Departamento de Medicina, Hospital Nacional Arzobispo Loayza, Lima, Perú
  • Roberto Avilés Departamento de Medicina, Hospital Nacional Arzobispo Loayza, Lima, Perú
  • Yngrid Necochea Departamento de Medicina, Hospital Nacional Arzobispo Loayza, Lima, Perú
  • María Manrique Departamento de Medicina Especialidades, Hospital Nacional Arzobispo Loayza, Lima, Perú
  • Rufo Postigo Departamento de Medicina Especialidades, Hospital Nacional Arzobispo Loayza, Lima, Perú

DOI:

https://doi.org/10.15381/anales.v62i1.4152

Keywords:

Marfan Syndrome, Heredity Disease, Chromosome Abnormalities

Abstract

Marfan’s syndrome is an autosomal dominant inheritance disorder that affects many body systems (skeletal, ocular, cardiovascular, cutaneous, pulmonary, abdominal, neurological). Marfan’s syndrome etiology is unknown, but recent genetic studies have linked this disorder to an extracellular microfibrillar defect located on chromosome 15q15-q21,3. Marfan’s syndrome characteristics require a multidisciplinary approach to patient care. We report a case of sporadic Marfan’s syndrome and review the clinical manifestations, the newly Ghent Criteria required for diagnosis, and management strategies, including follow-up, risk-factors modification, genetic counseling, and surgery in selected patients.
Vol 62, No 1 (2001)

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Published

2001-03-19

Issue

Vol. 62 No. 1 (2001)

Section

Trabajos originales

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Copyright (c) 2001 David Loja Oropeza, Maricela Vilca, Roberto Avilés, Yngrid Necochea, María Manrique, Rufo Postigo

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How to Cite

1.
Loja Oropeza D, Vilca M, Avilés R, Necochea Y, Manrique M, Postigo R. Marfan’S Syndrome. A Case Presentation and Review. An Fac med [Internet]. 2001 Mar. 19 [cited 2024 Jul. 17];62(1):56-62. Available from: https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/4152