Pediatric Ebstein Anomaly Clinical Presentation
- Author: Raymond T Fedderly, MD; Chief Editor: Stuart Berger, MD more...
For the purpose of clinical presentation of Ebstein anomaly, the patients are separated into the age groups used in a study by Celermajer et al.
An abnormal fetal scan is present in about 86% of fetuses, and an arrhythmia is present in about 5%.
Neonate (aged 0-1 mo)
About 74% of neonates have cyanosis, 10% have heart failure with poor feeding and failure to thrive, and 9% have an incidental heart murmur.
Infant (aged 2 mo to 2 y)
About 35% of infants have cyanosis, 43% have heart failure with poor feeding and failure to thrive, and 13% have an incidental heart murmur.
Child (aged 3-10 y)
About 14% of children have cyanosis, 8% have heart failure with poor growth and decreased exercise tolerance, 12% have an arrhythmia with complaints of palpitations, and 66% have an incidental heart murmur.
Adolescent (aged 11-18 y)
About 13% of adolescents have cyanosis, 13% have heart failure with dyspnea on exertion and decreased exercise tolerance, 40% have an arrhythmia with complaints of palpitations, and 33% have an incidental heart murmur.
Adult (aged >18 y)
About 4% of adults have cyanosis, 26% have heart failure with dyspnea on exertion and decreased exercise tolerance, 43% have an arrhythmia with complaints of palpitations, 13% have an incidental heart murmur, 20% have chest pain, and 6% have syncope.
The physical examination findings vary based on the age of the patient and the degree of tricuspid valve regurgitation and right ventricular outflow tract obstruction. Note the following:
The classic cardiac examination is marked by a gallop or quadruple rhythm caused by widely split first and second heart sounds, as well as a third heart sound or fourth heart sound.
Tricuspid regurgitation causes a holosystolic or regurgitant systolic murmur at the left lower sternal border.
A diastolic murmur of relative tricuspid stenosis and the systolic ejection murmur associated with right ventricular outflow tract obstruction may also be heard.
Congestive heart failure, if present, may cause passive liver congestion, and the liver edge may be easily palpable below the right costal margin.
Clubbing and elevated jugular venous distension may be present in older patients.
Most cases are sporadic, but familial cases have occurred. Maternal lithium and benzodiazepine exposures have been implicated as a cause of this disease.
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