OBJECTIVES: To assess evidence gaps related to the epidemiology and burden of obstructive hypertrophic cardiomyopathy (oHCM) in Europe, North America, and Japan.

METHODS: A targeted literature review was conducted using PubMed to identify English-language studies published between 2012 and 2022 for hypertrophic cardiomyopathy (HCM; of which oHCM is a subtype). Outcomes included epidemiology, natural history, pathophysiology, management, and clinical (e.g., clinical trials, observational studies), economic (e.g., healthcare resource use, cost), and humanistic burden/evidence. Original research articles, review articles, and congress abstracts focusing on adult patients published in France, Germany, Italy, Spain, United Kingdom (UK), United States (US), Canada, and Japan were included. Identified studies were assessed qualitatively to characterize evidence gaps.

RESULTS: Among 2,262 abstracts and 531 full-text articles screened, 178 eligible articles were included. Most studies evaluated HCM broadly, with limited information specifically for oHCM. Therefore, we updated the search using Google Scholar to identify additional oHCM articles (n=9). Disease natural history, pathophysiology, and management were well documented globally. Overall, significant evidence gaps were noted for the epidemiology and burden of oHCM globally, with no evidence found in Canada. No studies were identified for oHCM prevalence or incidence specific to France, Italy, Spain, or Canada. Single studies of oHCM prevalence were found for Germany/UK (https://doi.org/kd9s), US (PMID: 34503822), and Japan (PMID: 36208832). Although multiple US studies on the clinical, economic, and humanistic burden of oHCM were identified, and one clinical burden study was found for Japan (PMID: 36208832), there was a lack of burden studies for France, Germany, Italy, Spain, UK, and Canada.

CONCLUSIONS: Significant evidence gaps for the country-level epidemiology and burden of oHCM exist. Future research should address these gaps, with a specific focus on generating real-world evidence for Canada and European countries that will support the evaluation of emerging therapies in these regions.