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The Clinical Course and Echocardiographic Features of Marfan's Syndrome in Childhood

[ill]Tal Geva, MD; Julius Hegesh, MD; Mira Frand, MD
Am J Dis Child. 1987;141(11):1179-1182. doi:10.1001/archpedi.1987.04460110049020.
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• The clinical and echocardiographic [ill] manifestations In 25 patients with Marfan's syndrome diagnosed during infancy and childhood (mean [±]SD] age, 8.1±4.8±4.8 years; range 0 to to 16 years) were evaluated. Twenty-one patients (84%) had a midsystolic click, 11 patients (44%) hadd mitral regurgitation (MR), and five patients (20%) had combined MR and aortic regurgitation (AR). Echocardiography demonstrated mitral valve prolapse in all 25 patients, aortic root dilatation in 20 patients (80%), AR In seven patients (28%), and aortic aneurysm in five patients (20%). During the follow-up period (mean, 5±4.5 years), progressive AR and aortic aneurysm were documented in four patients, progressive MR in three patients, and progressive aortic root dilatation in two patients. Five patients (22%) died during the follow-up period. Among patients with a positive family history of Marfan's syndrome, MR was less frequent as compared with sporadic cases (29.4% vs 75%, respectively). Progresssive cardiovascular involvement was more frequent among patients diagnosed before 10 years of age compared with those diagnosed later (60% vs 12.5%, respectively). Cardiovascular involvement was a common feature of childhood Marfan's syndrome, causing significant morbidity and mortality. Sporadic cases and children diagnosed before 10 years of age represented a particularly high-risk group.

(AJDC 1987;141:1179-1182)

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