OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is characterized by primary left ventricular (LV) hypertrophy and is one of the most common cardiomyopathies (an estimated prevalence rate of 1 in 500) but expert consensus notes the majority of patients being undiagnosed, likely attributable to non-specific symptoms. This study aims to explore the association between time to diagnosis and healthcare resource utilization (HRU) and the associated economic burden to understand potential savings that can be achieved through earlier diagnosis and improved clinical management.

METHODS: A retrospective, observational study was undertaken utilizing linked primary and secondary care data in the UK from the Clinical Practice Research Datalink and Hospital Episode Statistics, respectively. Adult patients with an obstructive HCM diagnosis between 2007 and 2019 with ≥ 1-year continuous registration prior to diagnosis were included. Unit costs were derived from NHS reference (2021/22) and Personal Social Services Research Unit costs (2022).

RESULTS: The mean economic burden per patient year (PY) for the entirety of the pre-index period was £4,567 (95% confidence interval [CI]: £4,476-£4,599). A significant increase in burden was observed closer to diagnosis, with a cost of £6,917 [£6,652-£7,180] and £12,616 [£12,236-£12,995] in the second year, and year leading to diagnosis, respectively. Economic burden was driven by secondary care, independent of time to diagnosis, with hospital resources accounting for 85-90% of the total burden throughout. In the year prior to diagnosis, inpatient costs were £6,581 [£6,368-£6,793] accounting for over half of the total economic burden of patients.

CONCLUSIONS: This study is the first to demonstrate that a patient’s pathway to diagnosis can be potentially associated with significant system-level HRU and associated economic burden. Further research is needed to understand whether similar outcomes are observed in indirect costs and whether early, pro-active identification, diagnosis, and appropriate clinical management could realize the reduction of societal burdens.