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The diagnosis is Epstein's Anomaly (EA).
The echocardiographic signs of EA are
The symptoms occur from the TR, other associated congenital anomalies and conduction abnormalities that may be present. EA is associated with the following congenital anomalies:
50% of patients with EA will have WPW. Other conduction abnormalities are large P waves, 1st degree AV block, RBBB, inferior Q waves and anterior T wave inversion. Patients will typically present with
The treatment for EA, given the high mortality rate in neonates, is surgical repair or replacement. Most medical management focuses on arrhythmima prevention and management of the right sided heart failure.
Dr. Wilhelm Epstein discovered this condition and it was named after him (Epstein's Anomaly). Dr. Epstein also founded another condition where patients with Hodgkin's disease had cyclic fevers that increase and then decrease over one or two weeks. The cyclic phonomena was also discovered by Dr. P.K. Pel (who published the condition just before Epstein). Therefore, the condition was called Epstein-Pel fever (interesting that it wasn't called Pel-Epstein fever). They apparently argued over the etiology of the condition. Epstein-Pel fever only occurs in 5-10% of Hodgkin's patients. Dr. Richard Asher of the Medical Society of London, in 1959, felt that this condition only exists because it has a name.
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