Marfan Syndrome. Presentation of a case

An eight years-old male patient was presented, with a personal history of dyspnea, and who in the physical examination was found, in the Erb´s point, to have a small heart murmur. A transthoracic echocardiogram was performed. Marfan Syndrome is a rare pathology caused by a genetic mutation in fibril...

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Published inRevista información científica Vol. 101; no. 5; p. e4057
Main Authors Evelyn Johana Peñafiel-Criollo, Rosa Lisbeth Almache-Tercero, Daniela Abigail Cobo-Álvarez
Format Journal Article
LanguageSpanish
Published Universidad de Ciencias Médicas de Guantánamo 01.12.2022
Subjects
fibrilina
genética
mutación
síndrome de marfan
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Summary:An eight years-old male patient was presented, with a personal history of dyspnea, and who in the physical examination was found, in the Erb´s point, to have a small heart murmur. A transthoracic echocardiogram was performed. Marfan Syndrome is a rare pathology caused by a genetic mutation in fibrillin 1, essential for the synthesis of elastic connective tissue. It is associated with a high penetrance and marked phenotypic heterogeneity. Among the different clinical manifestations, cardiovascular involvement deserves special attention. Diagnosis requires a complete clinical evaluation of multiple organs and systems. Because of its extensive symptomatology, decision making is complex, therefore, when Marfan Syndrome is suspected, the revised Ghent criteria should be applied. Given the impact of prognosis and management, early medical therapy and timely surgical intervention, the patient's quality of life improved substantially.
ISSN:1028-9933