Background

Ebstein Anomaly is a rare birth defect of the heart characterized by a malformation of the tricuspid valve (a valve between the upper and lower chambers of the right side of the heart). In Ebstein anomaly, the tricuspid valve is misshapen and displaced lower than normal leading to excess blood flow to the right atrium causing it to be enlarged and potentially leading to congestive heart failure over time. [1] Ebstein anomaly is often associated with a communication between the right and left atria (atrial septal defect) which allows oxygen-poor blood for the right side of the heart to mix with oxygen-rich blood on the left side. Symptoms and signs of ebstein anomaly can include shortness of breath, lethargy, heart palpitations and cyanosis (bluish skin tone). [2] Ebstein anomaly does not have a specific cause, however, both genetic and environmental factors are believed to contribute. [3] Diagnosis is possible during pregnancy using ultrasound or after birth by echocardiogram. [1] Treatment, when necessary, includes open-heart surgery to repair or replace the tricuspid valve. Because an infant with Ebstein anomaly may need these procedures soon after birth, this defect is considered a critical congenital heart defect.


Epidemiology

Alaska Birth Defects Registry (ABDR) registers birth defects as reported from health care providers using International Classification of Disease (ICD) billing codes. The use of these ICD codes can lead to misclassification of diagnosed conditions. Prior to this report, all prevalence estimates were based on the number of unique children reported to ABDR with an ICD code representing a specified condition regardless of case confirmation status.

The estimates in this report were derived by conducting medical record review and case confirmation of all reported cases between 2007 and 2018. The confirmation probability calculated from this time period is used to develop informed estimates of the defect prevalence beyond 2018. See Defect prevalence calculation.

For explanations of table columns see Column descriptions.

Prevalence

Ebstein anomaly occurs in 0.77 (95% CI 0.69–0.85) in every 10,000 live births in the United States. [5]

In Alaska, during 2007-2021, the prevalence of Ebstein anomaly was 0.8 per 10,000 live births.
Reports Defects Births Prevalence (95% CI)
16 13.3 162989 0.8 (0.5, 1.4)
Notes: 95% CI = 95% Confidence Interval

Trend

Prevalence per 10,000 births of Ebstein anomaly during 2007-2021 by five-year moving averages, with 95% confidence interval band and Poisson estimated fitted line.
The p-value test for trend detected a significant decrease in number of live births with Ebstein anomaly during 2007-2021. See p-value estimate
Estimate Std. Error t value Pr(>|t|)
-0.15094 0.07133 -2.11621 0.06343
Notes: 95% CI = 95% Confidence Interval

Regional Distribution

Distribution of Ebstein anomaly in Alaska by Public Health Region of maternal residence at the time of birth. A description of regional breakdowns can be found here. Data suppressed for # of reports < 6.

Demographics

Some subgroups may be more at risk for having a baby with Ebstein anomaly. This section provides the descriptive epidemiology of specified maternal, birth, and child characteristics identified from the birth certificate.

Accompanying Diagnoses

The ten diagnoses most commonalty associated with Ebstein anomaly.

Technical notes

Column descriptions

# Reports: Unless otherwise noted, the number of unique reports of the defect received by ABDR during the specified birth year(s). Each report represents a unique child with the specified defect.

# Defects: The estimated true number of reports that are diagnosed defects based on medical record review and case confirmation.

# Births: The number of live births among Alaskan residents that occurred in Alaska during the specified birth year(s).

Prevalence (95% CI): The estimated diagnosed prevalence of the condition and corresponding 95% Confidence Interval. (For information on how the defect prevalence was estimated see below).

Defect prevalence calculation

The estimated defect prevalence was calculated using a Bayesian approach based on the reported prevalence, PPV and 1-NPV (see formula below).

Through medical records review and case confirmation of a random sample of reported cases, the defect prevalence is calculated as:

\[PPV (Positive Predictive Value) = p(defect|report)\] \[NPV (Negative Predictive Value) = p(\overline{defect}|\overline{report})\]

\[p(defect) \approx [p(report)\cdot PPV]+[p(\overline{report})\cdot (1-NPV)]\]

Defect prevalence estimates are a more accurate estimation of the actual diagnosed prevalance of birth defects compared to the reported prevalance estimates in Alaska. ABDR obtains reports from medical providers using International Classification of Disease (ICD) codes that are extracted from individual systems which when aggregated may not reflect true diagnostics. Caution should be used when interpreting and comparing the reported prevalence estimates with national estimates.

See Data analysis methods for more information.

P-value estimate

To evaluate the trend over time and account for under/over-dispersion we constructed a quasi-Poisson regression model. This model assumes the variance is a linear function of the mean and models the estimated number of annual defects by year with a natural log (ln) offset of the annual births. P-values < 0.05 are considered significant, which indicates that the predicted slope is significantly different from a slope of zero.

Data suppression

For region and demographic data tables, values are suppressed based on the number of reports received during the observation period. Counts less than 6 are suppressed (as indicated by ‘-’ in the table). For regions or demographics with only one cell count suppressed a second is suppressed to eliminate the ability to back-calculate the estimate.

References

[1] Ebstein’s Anomaly of the Tricuspid Valve | Children’s Hospital of Philadelphia. (2021). Retrieved 1 April 2021, from https://www.chop.edu/conditions-diseases/ebstein-s-anomaly-tricuspid-valve

[2] Ebstein anomaly - Symptoms and causes. (2021). Retrieved 1 April 2021, from https://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/symptoms-causes/syc-20352127

[3]Ebstein’s Anomaly. (2021). Retrieved 1 April 2021, from https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/ebsteins-anomaly

[4] Ebstein’s Anomaly | Boston Children’s Hospital. (2021). Retrieved 31 March 2021, from https://www.childrenshospital.org/conditions-and-treatments/conditions/e/ebsteins-anomaly

[5] Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435

Authorship

Maternal and Child Health (MCH) senior epidemiologist Dr. Jared Parrish, PhD conceived of the presented analysis. Alaska Birth Defects Registry program manager and epidemiologist Chris Barnett, MS MPH and Dr. Jared Parrish, PhD developed the theory and performed the computations. Research analysts Monica Mills and Jordyn Lord managed the project and data storage. Pediatric cardiologist Dr. James Christiansen, MD performed defect confirmations and provided medical consultation. All authors discussed the results and contributed to the final report.

Suggested Citation

State of Alaska Department of Health and Social Services, Division of Public Health, Section of Women’s, Children’s, and Family Health. Alaska Birth Defects Registry Condition Report: Ebstein anomaly, Alaska, 2007-2021. Available at: http://rpubs.com/AK_ABDR/ebste.

Contact

Alaska Birth Defects Registry (ABDR)
3601 C Street, Suite 358
Anchorage, AK 99503
(907) 269-3400 phone
(907) 754-3529 fax

Updated: April 11, 2024
Code source: R:\ABDR\Analysis_New\ABDR_CASECONF\cond_reports\Published_reports\Targets_publications\ebste_tar.Rmd