Key result
Fetal presentation of Ebstein's anomaly linked to ~6.9-fold higher mortality vs. later presentation.
Why the study?
Previous natural history studies of Ebstein's anomaly were based on clinical and angiographic diagnosis mainly in older children and adults, but echocardiography has enabled fetal and neonatal diagnosis requiring redefinition of the natural history.
What are the clinical presentation patterns and long-term survival outcomes for patients with Ebstein's anomaly from fetal life to adulthood?
Cohort (n=220)
What are the clinical presentation patterns and long-term survival outcomes for patients with Ebstein's anomaly from fetal life to adulthood?
Fetal and neonatal presentations of Ebstein's anomaly carry a poor prognosis driven by associated lesions and right ventricular outflow tract obstruction, whereas presentation in older children and adults has a more favorable long-term outcome.
OBJECTIVES: This study was conducted to investigate the presentation and outcome of patients with Ebstein's anomaly of the tricuspid valve. BACKGROUND: Ebstin's anomaly may present at any age and has a highly variable clinical course. Previous natural history studies have been based on clinical and angiographic diagnosis and have included mainly older children and adults. Echocardiography, however, has facilitated fetal and neonatal diagnosis so that the natural history needs to be redefined. METHODS: We reviewed 220 cases of Ebstein's anomaly presenting from fetal to adult life between 1958 and 1991, with 1 to 34 years of follow-up. RESULTS: The most common presentation in each age group was abnormal routine prenatal scan for fetuses (86%), cyanosis for neonates (74%), heart failure for infants (43%), incidental murmur for children (63%) and arrhythmia for adolescents and adults (42%). Early presentation was frequently associated with other cardiac lesions, usually pulmonary stenosis or atresia. Surgery was undertaken at some stage in 86 (39%) of the 220 patients. Actuarial survival for all liveborn patients was 67% at 1 year and 59% at 10 years. There were 58 deaths, including 26 from heart failure, 19 perioperative and 8 sudden. Predictors of death included echocardiographic grade of severity at presentation (relative risk 2.7 for each increase in grade, 95% confidence limits 1.6 to 4.6), fetal presentation (6.9, confidence limits 1.6 to 16.5) and right ventricular outflow tract obstruction (2.1, confidence limits 1.1 to 4.4). Morbidity was mainly related to arrhythmias and late hemodynamic deterioration. Of 155 survivors, 129 (83%) were in functional class 1 and 104 (67%) were receiving no medical therapy. CONCLUSIONS: In Ebstein's anomaly, fetal and neonatal presentation is associated with a poor outcome and can be predicted by the echocardiographic appearance and presence of associated lesions. In older children and adults, incidental findings and arrhythmia are common and the long-term outcome is superior.
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Celermajer et al. (1994) conducted a cohort in Ebstein's anomaly of the tricuspid valve (n=220). Fetal presentation vs. Non-fetal presentation was evaluated on Death (RR 6.9, 95% CI 1.6-16.5). Fetal presentation of Ebstein's anomaly was strongly associated with a higher risk of death (RR 6.9; 95% CI 1.6-16.5) compared to those presenting later in life.
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