Key result
Echocardiography in Ullrich-Noonan syndrome identifies undiagnosed LV disease, raising heart disease frequency to ~50%.
Why the study?
Previously undiagnosed left ventricular disease has been found in individuals with Ullrich-Noonan syndrome, raising the estimated frequency of heart disease to about 50%.
What are the echocardiographic features of left ventricular disease in Ullrich-Noonan syndrome?
Population
Individuals and families with Ullrich-Noonan syndrome
Comparison
Echocardiographic evaluation of left ventricular disease vs other cardiac abnormalities
Design
Observational echocardiographic study
Authors
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Suggests echocardiography screening may identify occult disease in Ullrich-Noonan syndrome; hypothesis-generating and requires prospective validation before practice change.
Observational
What are the echocardiographic features of left ventricular disease in Ullrich-Noonan syndrome?
Echocardiography is valuable for detecting atypical left ventricular disease in Ullrich-Noonan syndrome, which lacks the systolic anterior motion of the mitral valve seen in typical asymmetric septal hypertrophy.
James J. Nora (1975) conducted an observational in Ullrich-Noonan syndrome. Echocardiography was evaluated on Frequency of heart disease. Echocardiography in individuals with Ullrich-Noonan syndrome identified previously undiagnosed left ventricular disease, raising the estimated frequency of heart disease to about 50%.
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