Marfanoid children. Etiologic heterogeneity and cardiac findings
S. Tayel, T. W. Kurczynski, M. Levine, E. Brookfield, R. Ehrlich, J. R. Hennessy and M. M. DeBeukelaer
Department of Pediatrics, Medical College of Ohio, Toledo 43699.
The clinical, cardiac, and echocardiographic test results of 20 children
with marfanoid features are reviewed. Fifteen were diagnosed as having
Marfan syndrome, two had "possible" Marfan syndrome, and three had other
diagnoses. On first evaluation, eight patients with Marfan syndrome (53%)
had mitral regurgitation and none had aortic regurgitation.
Echocardiography showed aortic root enlargement in 12 (80%) of 15 patients
and mitral valve prolapse in 12 (80%) of 15. None had a normal
echocardiogram. At follow-up examination, one patient had developed aortic
root enlargement, and one patient, mitral valve prolapse. Thus, although
aortic root enlargement is usually present in early childhood in patients
with Marfan syndrome, it is not considered specific because in this study
it also occurred in one child with Alport's syndrome and in one with
marfanoid features. Four patients with aortic root enlargement were treated
with propranolol and their echocardiograms showed no further increase in
the aortic root diameter for several years. We recommend echocardiography
in the diagnosis and routine management of children in whom Marfan syndrome
is suspected.
