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ISSN 1028-9933 (Electronic)

2022, Number 5

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RIC 2022; 101 (5)

Marfan Syndrome. Presentation of a case

Peñafiel-Criollo EJ, Almache-Tercero RL, Cobo-Álvarez DA

Language: Spanish
References: 11
Page: 1-7
PDF size: 674.74 Kb.


ABSTRACT

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.


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