Abstract

Background: The clinical characteristics and management of hypertrophic cardiomyopathy (HCM) are well-described in European cohorts. However, less is known about other ethnic groups. We compared demographic, clinical, genetic and service use characteristics of patients with HCM across major ethnic groups represented in our cohort. Methods: Retrospective cohort study of 812 HCM probands attending a specialised clinic between 2002 and 2020. The ethnic groups were European n=611, East Asian n=75, South Asian n=58 and Middle Eastern and North African n=68. Analysis included one-way ANOVA with Dunnett's post-hoc comparison or Bonferroni adjustment. Results: The mean age was 55 ± 17 years and 527 (65%) were male. Using the European group as the control, East Asians had a lower body mass index (29 versus 25 kg/m 2 , p<0.05) and South Asians had a lower prevalence of atrial fibrillation (10% versus 31%, p<0.02). Differences also existed in echocardiographic characteristics with East Asians more likely to have apical hypertrophy (23% versus 6%, p<0.02 and Middle Eastern and North African patients more likely to present with left ventricular outflow tract obstruction (46% versus 34%, p<0.02). East Asians were less likely to undergo genetic testing (55% versus 85%, p<0.02) or have an implantable cardioverter defibrillator (19% versus 36%, p<0.02) despite similar HCM-Risk score. Middle Eastern and North Africans and South Asians had the highest rates of variants of unknown significance (27% and 21%, p<0.02; Fig A), while East Asians were more likely to have a causative sarcomere gene variant other than MYBPC3 or MYH7 (58% versus 11%, p<0.02 (Fig B). Conclusion: We demonstrate variability in the phenotype expression and management of HCM by ethnic group, representing differences in pathophysiology, sociocultural contexts, and access to healthcare. This may indicate a role of ethnicity in understanding the clinical course of HCM, and highlight disparities faced by some groups.

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