Manifestações Cardiovasculares em Paciente Portador de Síndrome de Marfan: Relato de Caso / Cardiovascular Manifestations in a Patient With Marfan's Syndrome: Case Report
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Abstract
Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi diagnosticado em nosso serviço, e que evoluiu com as alterações cardiovasculares mais importantes descritos nessa síndrome, foi devidamente tratado e acompanhado. Conhecendo-se a etiologia de caráter hereditário autossômico dominante, investigamos e descrevemos também achados cardiovasculares em outros membros da família do paciente. Discussão: A Síndrome de Marfan pode afetar vários órgãos, incluindo o esqueleto, olhos, coração e vasos sanguíneos, sendo que os dois últimos são os que possuem maior impacto na sobrevida dos pacientes. As manifestações cardiovasculares incluem a doença valvar e o acometimento da aorta. O prolapso da válvula mitral é a anormalidade mais comum, podendo acometer até 100% dos pacientes. A dilatação da raiz da aorta, apesar de menos frequente pode evoluir para dissecção, representando, portanto, a maior causa de morbimortalidade. Conclusão: A Síndrome de Marfan, apesar de ser a doença do tecido conectivo mais comum, possui um diagnóstico difícil devido a manifestações inespecíficas que podem levar a um subdiagnóstico ou um diagnóstico tardio.
Palavras-chave Síndrome de Marfan; Doenças do tecido conjuntivo; Doenças cardiovasculares.
Introduction: Marfan syndrome (SMF) and a connective tissue disease with autosomal dominant inheritance with an incidence of 2-3 per 10,000 individuals. Case Report: We report a case of a patient with Marfan syndrome who was diagnosed in our service and evolved with the most important cardiovascular changes described in this syndrome, was properly treated and monitored. Knowing the etiology of autosomal dominant hereditary, we also describe and investigated cardiovascular findings in other members of the patient's family. Discussion: The Marfan Syndrome can affect various organs, including the skeleton, eyes, heart and blood vessels, and the last two are the ones that have the greatest impact on patient survival. Cardiovascular manifestations include valvular disease and involvement of the aorta. The Mitral valve prolapse and the most common abnormality and may affect up to 100% of patients. The dilation of the aortic root, although less frequently can progress to dissection, representing therefore a major cause of morbidity and mortality. Conclusion: The Marfan syndrome, despite being the most common disease of the connective tissue, has a difficult to diagnose due to nonspecific manifestations that can lead to underdiagnosis or delayed diagnosis.
Keywords: Marfan syndrome, connective tissue disease, cardiovascular Disease.
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