Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy

Circ Heart Fail. 2021 Mar;14(3):e007537. doi: 10.1161/CIRCHEARTFAILURE.120.007537. Epub 2021 Mar 16.

Abstract

Background: Clinical studies of hypertrophic cardiomyopathy are over-represented by individuals of European ethnicity, with less known about other ethnic groups. We investigated differences between patients in a multiethnic Australian hypertrophic cardiomyopathy population.

Methods: We performed a retrospective cohort study of 836 unrelated hypertrophic cardiomyopathy probands attending a specialized clinic between 2002 and 2020. Major ethnic groups were European (n=611), East Asian (n=75), South Asian (n=58), and Middle Eastern and North African (n=68). The minor ethnicity groups were Oceanian (n=9), People of the Americas (n=7), and African (n=8). One-way ANOVA with Dunnett post hoc test and Bonferroni adjustment were performed.

Results: Mean age of the major ethnic groups was 54.9±16.9 years, and 527 (65%) were male. Using the European group as the control, East Asian patients had a lower body mass index (29 versus 25 kg/m2, P<0.0001). South Asians had a lower prevalence of atrial fibrillation (10% versus 31%, P=0.024). East Asians were more likely to have apical hypertrophy (23% versus 6%, P<0.0001) and Middle Eastern and North African patients more likely to present with left ventricular outflow tract obstruction (46% versus 34%, P=0.0003). East Asians were less likely to undergo genetic testing (55% versus 85%, P<0.0001) or have an implantable cardioverter-defibrillator implanted (19% versus 36%, P=0.037). East Asians were more likely to have a causative variant in a gene other than MYBPC3 or MYH7, whereas Middle Eastern and North African and South Asians had the highest rates of variants of uncertain significance (27% and 21%, P<0.0001).

Conclusions: There are few clinical differences based on ethnicity, but importantly, we identify health disparities relating to access to genetic testing and implantable cardioverter-defibrillator use. Unless addressed, these gaps will likely widen as we move towards precision-medicine-based care of individuals with hypertrophic cardiomyopathy.

Keywords: atrial fibrillation; ethnic group; genetic testing; healthcare disparities; hypertrophic cardiomyopathy; hypertrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Africa, Northern / ethnology
  • Aged
  • Asia / ethnology
  • Asia, Eastern / ethnology
  • Asia, Western / ethnology
  • Asian People / genetics
  • Australia
  • Black People / genetics
  • Cardiac Myosins / genetics
  • Cardiomyopathy, Hypertrophic / ethnology
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / physiopathology*
  • Cardiomyopathy, Hypertrophic / therapy
  • Carrier Proteins / genetics
  • Defibrillators, Implantable / statistics & numerical data
  • Ethnicity / genetics*
  • Female
  • Genetic Testing / statistics & numerical data
  • Healthcare Disparities / ethnology*
  • Humans
  • Male
  • Middle Aged
  • Middle East / ethnology
  • Myosin Heavy Chains / genetics
  • Native Hawaiian or Other Pacific Islander / genetics
  • Retrospective Studies
  • White People / genetics

Substances

  • Carrier Proteins
  • MYH7 protein, human
  • myosin-binding protein C
  • Cardiac Myosins
  • Myosin Heavy Chains