Association of eosinophilic esophagitis and hypertrophic cardiomyopathy

J Allergy Clin Immunol. 2016 Mar;137(3):934-6.e5. doi: 10.1016/j.jaci.2015.08.026. Epub 2015 Oct 5.


We report the association of eosinophilic esophagitis (EoE) and hypertrophic cardiomyopathy (HCM) and provide genetic data indicating a linkage between EoE and HCM. The letter begins with an index patient diagnosed with both EoE and HCM and found to have a known genetic mutation for HCM. We then identify an odds ratio of nearly 8 for having both EoE and HCM following review of an electronic medical record with >1,000,000 individuals. Finally, via a candidate gene approach we identify significant association of HCM gene variants in a cohort of EoE patients versus control subjects. Collectively, we have identified a putative interaction between EoE and HCM with clinical and pathogenic implications.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic / complications*
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / epidemiology
  • Cardiomyopathy, Hypertrophic / genetics
  • Carrier Proteins / genetics
  • Eosinophilic Esophagitis / complications*
  • Eosinophilic Esophagitis / diagnosis
  • Eosinophilic Esophagitis / drug therapy
  • Eosinophilic Esophagitis / epidemiology
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation
  • Polymorphism, Single Nucleotide


  • Carrier Proteins
  • myosin-binding protein C