Population-based estimates of the prevalence of children with congenital heart disease and associated comorbidities

Background Congenital heart defects (CHD) are the most common birth defects and are estimated to affect almost 1% of births annually in the US. CHDs are the leading cause of infant mortality associated with birth defects and can result in chronic disability, morbidity and increased healthcare costs. Most CHD prevalence estimates rely on data from population-based birth defects surveillance systems and these estimates are inconsistent due to varied definitions. It is therefore important to derive high-quality, population-based estimates of the prevalence of CHD to help care for this vulnerable population. Methods We performed a descriptive, retrospective 8-year analysis using all payer claims data (APCD) from Colorado (CO) from 2012 - 2019. Children with CHD were identified by applying ICD-9 and ICD-10 diagnoses codes from the American Heart Association-American College of Cardiology (AHA-ACC) harmonized cardiac codes. We included children with CHD <18 years of age who resided in CO, had a documented zip code, and had at least one healthcare claim. CHD type was categorized as simple, moderately complex and complex disease. Association with comorbid conditions and genetic diagnoses were analyzed using chi-square test. We used direct standardization to calculate adjusted prevalence rates, controlling for age, sex, primary insurance provider and urban-rural residence. Results We identified 1,566,328 children receiving care in CO from 2012 – 2019. Of those, 30,512 children had at least one CHD diagnosis, comprising 1.9% (95% CI: 1.93 – 1.97) of the pediatric population. Over half of the children with CHD also had at least one complex chronic condition and 11% had a genetic diagnosis. Conclusion The current study is the first population-level analysis of pediatric CHD in the US. Our study found a higher CHD prevalence than in previously reported studies and a high comorbidity burden. These findings can inform initiatives to improve screening, treatment and planning of care for this complex population. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement American Heart Association Congenital Heart Defect Pre-Doctoral Fellowship Award ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The Committee for the Protection of Human Subjects at Dartmouth College provided approval for the research. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Data is available through the Colorado Center for Improving Value in Health Care (CIVHC)