RESUMO
El síndrome de Marfan se produce principalmente por mutaciones del gen FBN1. El diagnóstico suele basarse en criterios clínicos, pero la forma de presentación fenotípica es muy diversa en los individuos afectados. La disección o la rotura aórtica son la causa de la muerte en más del 90% de los pacientes no tratados. La identificación precoz de los individuos en riesgo es importante, teniendo en cuenta la disponibilidad de tratamientos médicos y quirúrgicos que mejoran significativamente la esperanza de vida. Los estudios moleculares pueden proporcionar un diagnóstico etiológico en los pacientes con formas de presentación clínica atípicas o más leves y contribuyen al manejo preventivo de portadores y el consejo genético y la tranquilización de los individuos no afectados. En este artículo, mediante la descripción de una familia con síndrome de Marfan con una forma de presentación vascular atípica y agresiva, ponemos de relieve la utilidad de las pruebas de detección de la mutación de FBN1 en casos seleccionados (AU)
Marfan syndrome ismainly caused bymutations in the FBN1 gene. Diagnosis is usually based on clinical criteria, but the phenotypic presentation varies widely among affected individuals. Aortic dissection or rupture is the cause of death in over 90% of untreated patients. Early identification of individuals at risk is important given the availability of medical and surgical treatment that can significantly improve lifeexpectancy. Molecular testing could provide an etiologic diagnosis in patients who present with milder or atypical clinical forms of the disease. Moreover, it could contribute to preventive treatment in carriers, inform genetic counseling and offer reassurance to unaffected individuals. By describing a family with Marfan syndrome in whom the disease presented in an atypical aggressive form, this article highlights the value of tests for detecting FBN1 mutations in selected cases (AU)
Assuntos
Humanos , Masculino , Feminino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Biologia Molecular/métodos , Biologia Molecular/tendências , Dissecação/tendências , Dissecação , Mutação/genética , Reação em Cadeia da Polimerase , Fenótipo , Consentimento Livre e Esclarecido/normas , Dilatação Patológica/complicações , Diagnóstico DiferencialRESUMO
Marfan syndrome is mainly caused by mutations in the FBN1 gene. Diagnosis is usually based on clinical criteria, but the phenotypic presentation varies widely among affected individuals. Aortic dissection or rupture is the cause of death in over 90% of untreated patients. Early identification of individuals at risk is important given the availability of medical and surgical treatment that can significantly improve life-expectancy. Molecular testing could provide an etiologic diagnosis in patients who present with milder or atypical clinical forms of the disease. Moreover, it could contribute to preventive treatment in carriers, inform genetic counseling and offer reassurance to unaffected individuals. By describing a family with Marfan syndrome in whom the disease presented in an atypical aggressive form, this article highlights the value of tests for detecting FBN1 mutations in selected cases.
