Cardiomyopathy
Occurrence of Clinically Diagnosed Hypertrophic Cardiomyopathy in the United States

https://doi.org/10.1016/j.amjcard.2016.02.044Get rights and content

Hypertrophic cardiomyopathy (HC) is the most common genetic heart disease and an important cause of sudden death and heart failure symptoms. The current prevalence for HC (1:500) is based on echocardiographic population studies in which a substantial proportion of affected subjects have not come to clinical recognition. Therefore, we sought to define the subset of patients with HC who are diagnosed in the US. A proprietary integrated claims database including medical condition International Classification of Diseases, Ninth Revision diagnostic codes for over 160 million individual patients in the US was interrogated for 2013 to identify the prevalence of clinically recognized HC. Patients with ≥1 claim for any of the HC International Classification of Diseases, Ninth Revision diagnosis codes from January to December 2013 were identified. The combined occurrence rate of HC was stratified by age and gender and multiplied by the 2013 United States population in the same age/gender categories to produce the final projected prevalence. The analysis was performed on 169,089,614 patients, of whom 59,009 unique patients were identified with ≥1 claim for HC. The projected estimated occurrence of diagnosed HC in the US in 2013 was 1:3,195 for a total of 98,958 subjects. Average age at HC diagnosis was in the fifth decade of life, with 43% of the cohort composed of women. In conclusion, leveraging a claims-based data analytic technique, about 100,000 patients are diagnosed clinically with HC in the US, an occurrence which is less than the prevalence reported in systematic population studies based on echocardiographic diagnosis. This observation supports the view that many patients with HC are undiagnosed throughout life and enhances our understanding of the burden of this genetic heart disease on the health care system.

Section snippets

Methods

We queried a large proprietary integrated claims database (Symphony Health Solutions [SHS], Phoenix, Arizona), which includes medical condition diagnostic codes (International Classification of Diseases, Ninth Revision [ICD-9]) for over 160 million individual patients (>1/2 census population of 316,159,818 in 20134) in the United States. These claims are captured in each of the US states and include all insurance types, including Medicare and Medicaid. The database is composed of electronically

Results

Over the study period, 169,089,614 unique patients were identified, of which 59,009 had ≥1 HC diagnostic claim (Figure 1). The final occurrence of diagnosed HC in the United States for 2013 was estimated to be 1:3,195. This prevalence estimate yielded a total of 98,958 patients with HC, approximately half of whom are presumed to be symptomatic based on previous large HC cohort studies.3, 6 The average age of HC diagnosis was in the fifth decade of life, with 43% of the HC cohort comprised

Discussion

Leveraging a claims-based analytic technique, the number of clinically diagnosed patients with HC in the US is about 100,000 patients. This figure represents the first reasonable estimate on which nationwide resource allocation and health care burden related to HC can be evaluated. Of note, although considerable in absolute terms, the frequency with which patients are diagnosed with HC and seek medical care contrasts sharply with the much higher estimated occurrence of unrecognized disease

Disclosures

Dr. Maron had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. The study was funded by Gilead Sciences, Inc. The sponsor was involved in design and conduct of the study; interpretation of the data; preparation, review, and approval of the manuscript; and decision to submit the manuscript for publication. Drs. Maron, Olivotto, and Lucove report receiving consulting fees from Gilead Sciences, Inc. Drs. Hellawell

References (8)

There are more references available in the full text version of this article.

Cited by (88)

  • Multimodality imaging of hypertrophic cardiomyopathy

    2023, Progress in Cardiovascular Diseases
View all citing articles on Scopus

See page 1653 for disclosure information.

View full text