Characterising Clinically Recognised Hypertrophic Cardiomyopathy in six European Countries Using Real-World Data

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BACKGROUND AND AIMS: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. However, large-scale epidemiological evidence remains scarce due to challenges in real-world disease recognition. This study aimed to characterise clinically recognised HCM and obstructive HCM (oHCM) across six European countries regarding prevalence, demographics, and clinical characteristics. METHODS: We conducted a retrospective cohort study using routinely collected healthcare data from six European countries, all mapped to the Observational Medical Outcomes Partnership (OMOP) Common Data Model within the DARWIN EU® network: CPRD-GOLD (UK), DK-DHR (Denmark), InGef RDB (Germany), NAJS (Croatia), NLHR (Norway), and SIDIAP (Spain). Clinically recognised HCM was defined based on recorded diagnoses captured in routine healthcare data, rather than on imaging-, haemodynamic-, or genotype-confirmed population screening. Adults (≥18 years) with a first recorded HCM or oHCM diagnosis after 2010 were included. We estimated annual period prevalence and described recorded comorbidities, diagnostic measurements, and treatments before, at, and after diagnosis. RESULTS: Among 40,277 individuals with HCM, 12,363 (31%) were first diagnosed with oHCM. Females were older than males at diagnosis (median 67-78 vs 57-68 years). Annual period prevalence increased over time, ranging from 0.04% (95% Confidence interval: 0.04-0.05) to 0.24% (0.23-0.24) in recent years. Prevalence was higher in males, but differences diminished among those aged ≥80 and with oHCM. Cardiovascular comorbidities were frequently recorded before and at the time of first diagnosis, especially hypertension, cardiac arrhythmias, ischaemic heart disease, and heart failure. Beta-blockers, diuretics, and angiotensin-converting enzyme inhibitors were the most common treatments. Most comorbidities and treatments were recorded over a year before HCM diagnosis. CONCLUSIONS: An increase in the prevalence of clinically recognised HCM across Europe was observed over time. This trend is likely multifactorial and may reflect changes in disease recognition, clinical practice, demographics, database-related factors, and potentially the underlying disease burden. Cardiovascular comorbidities and treatments were frequently recorded prior to diagnosis, which may suggest that some patients would benefit from increased diagnostic awareness.

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