Marfan’S Syndrome. A Case Presentation and Review

• Autores: Loja Oropeza, David, Vilca, Maricela, Avilés, Roberto, Necochea, Yngrid, Manrique, María, Postigo, Rufo
• Formato: artículo
• Fecha de Publicación: 2001
• Institución: Universidad Nacional Mayor de San Marcos
• Repositorio: Revistas - Universidad Nacional Mayor de San Marcos
• Lenguaje: español
• OAI Identifier: oai:ojs.csi.unmsm:article/4152
• Enlace del recurso: https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/4152
• Nivel de acceso: acceso abierto
• Materia: Marfan Syndrome; Heredity Disease; Chromosome Abnormalities; Síndrome de Marfan; Enfermedades Hereditarias; Anomalías Cromosomáticas

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.