Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States
Background: Dilated cardiomyopathy (DCM) contributes significantly to heart failure prevalence, yet supporting epidemiologic data is sparse. This study sought to estimate the period prevalence of DCM and the proportion of idiopathic DCM in the United States using a large, diverse electronic health r...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-12-01
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| Series: | American Journal of Medicine Open |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2667036423000080 |
| _version_ | 1797738933890580480 |
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| author | Yaa Ababio Scott P. Kelly Franca S Angeli Joanne Berghout Kui Huang Kathy Liu Sara Burns Cynthia Senerchia Rob Moccia Gabriel C. Brooks |
| author_facet | Yaa Ababio Scott P. Kelly Franca S Angeli Joanne Berghout Kui Huang Kathy Liu Sara Burns Cynthia Senerchia Rob Moccia Gabriel C. Brooks |
| author_sort | Yaa Ababio |
| collection | DOAJ |
| description | Background: Dilated cardiomyopathy (DCM) contributes significantly to heart failure prevalence, yet supporting epidemiologic data is sparse. This study sought to estimate the period prevalence of DCM and the proportion of idiopathic DCM in the United States using a large, diverse electronic health records (EHR) database. Methods: This retrospective, observational study included 56,812,806 deidentified patients in Optum EHR with visits between 2017 and 2019. Suspected DCM cases were identified using ICD-10 coding. Deidentified clinical notes from 1000 randomly selected cases were manually reviewed to determine the diagnosis of DCM and estimate the proportion of idiopathic DCM. The period prevalence and clinical burden of DCM and idiopathic DCM were estimated. Results: Manual clinical review demonstrated that our definition had a positive predictive value of 92.5% for DCM, with 46.3% estimated as the idiopathic DCM proportion. The estimated period prevalence of DCM between 2017 and 2019 was 118.33 per 100,000. Prevalence increased for adults ≥65 years of age, males, and African Americans. Extrapolation to the 2019 US population led to an overall estimated burden of roughly 388,350 patients. Adjusting for the proportion of cases with idiopathic DCM yielded an idiopathic DCM prevalence of 59.23 per 100,000 and a burden of 194,385 patients. Evidence of clinical genetic testing in this population was scarce, with less than 0.43% of DCM cases reporting a testing code. Conclusions: This study establishes a conservative period prevalence for DCM and idiopathic DCM and demonstrates very low molecular genetic testing for DCM. These findings suggest that the clinical burden of genetic DCM may be underestimated. |
| first_indexed | 2024-03-12T13:50:59Z |
| format | Article |
| id | doaj.art-6d203e22dd34425cbe092f4429a9a700 |
| institution | Directory Open Access Journal |
| issn | 2667-0364 |
| language | English |
| last_indexed | 2024-03-12T13:50:59Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Medicine Open |
| spelling | doaj.art-6d203e22dd34425cbe092f4429a9a7002023-08-23T04:34:28ZengElsevierAmerican Journal of Medicine Open2667-03642023-12-0110100038Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United StatesYaa Ababio0Scott P. Kelly1Franca S Angeli2Joanne Berghout3Kui Huang4Kathy Liu5Sara Burns6Cynthia Senerchia7Rob Moccia8Gabriel C. Brooks9Pfizer, Inc, New York, N.Y.Pfizer, Inc, New York, N.Y.Pfizer, Inc, Collegeville, PAPfizer, Inc, Boston, MassPfizer, Inc, New York, N.Y.Pfizer, Inc, Collegeville, PAPanalgo, Boston, MassOptum Digital Research Network, Boston, MassPfizer, Inc, Boston, MassPfizer, Inc, Boston, Mass; Corresponding author: Gabriel C Brooks, MD MAS FACC, Executive Director—Head of Rare Cardiology, Worldwide Research, Development and Medical, Rare Disease Research Unit, 1 Portland Street, 2nd floor, Cambridge, Mass.Background: Dilated cardiomyopathy (DCM) contributes significantly to heart failure prevalence, yet supporting epidemiologic data is sparse. This study sought to estimate the period prevalence of DCM and the proportion of idiopathic DCM in the United States using a large, diverse electronic health records (EHR) database. Methods: This retrospective, observational study included 56,812,806 deidentified patients in Optum EHR with visits between 2017 and 2019. Suspected DCM cases were identified using ICD-10 coding. Deidentified clinical notes from 1000 randomly selected cases were manually reviewed to determine the diagnosis of DCM and estimate the proportion of idiopathic DCM. The period prevalence and clinical burden of DCM and idiopathic DCM were estimated. Results: Manual clinical review demonstrated that our definition had a positive predictive value of 92.5% for DCM, with 46.3% estimated as the idiopathic DCM proportion. The estimated period prevalence of DCM between 2017 and 2019 was 118.33 per 100,000. Prevalence increased for adults ≥65 years of age, males, and African Americans. Extrapolation to the 2019 US population led to an overall estimated burden of roughly 388,350 patients. Adjusting for the proportion of cases with idiopathic DCM yielded an idiopathic DCM prevalence of 59.23 per 100,000 and a burden of 194,385 patients. Evidence of clinical genetic testing in this population was scarce, with less than 0.43% of DCM cases reporting a testing code. Conclusions: This study establishes a conservative period prevalence for DCM and idiopathic DCM and demonstrates very low molecular genetic testing for DCM. These findings suggest that the clinical burden of genetic DCM may be underestimated.http://www.sciencedirect.com/science/article/pii/S2667036423000080CardiomyopathyDilated cardiomyopathyEpidemiologyGenetic testingHeart failureHeritable |
| spellingShingle | Yaa Ababio Scott P. Kelly Franca S Angeli Joanne Berghout Kui Huang Kathy Liu Sara Burns Cynthia Senerchia Rob Moccia Gabriel C. Brooks Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States American Journal of Medicine Open Cardiomyopathy Dilated cardiomyopathy Epidemiology Genetic testing Heart failure Heritable |
| title | Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States |
| title_full | Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States |
| title_fullStr | Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States |
| title_full_unstemmed | Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States |
| title_short | Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States |
| title_sort | prevalence and clinical burden of idiopathic dilated cardiomyopathy in the united states |
| topic | Cardiomyopathy Dilated cardiomyopathy Epidemiology Genetic testing Heart failure Heritable |
| url | http://www.sciencedirect.com/science/article/pii/S2667036423000080 |
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