DNA Testing For The HCM Mutation In Cats
Published February 2014

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Hypertrophic Cardiomyopathy (HCM) is a disease that causes thickening of the heart muscle.  As the muscle becomes progressively thicker, less blood volume is pumped around the body.  This leads to symptoms of heart failure including labored breathing, lethargy, weakness, collapsing episodes, and even sudden death.  HCM is the most common form of heart disease in cats.

While the cause of HCM is not known, researchers have discovered that there is a genetic component that predisposes some cats to developing HCM.


The DNA Helix

Two Separate DNA Tests for HCM

There are currently two HCM genetic mutations that have been identified in two breeds of cats:

  • Maine Coons:  In 2005, the gene that causes HCM in Maine Coons was identified and shortly after, a DNA test for the gene was available to the delight of breeders.  Although scientists had identified one HCM mutation in Maine Coons, they know that this mutation to not responsible for ALL cases of HCM in the breed.  Already, there have been cases of Maine Coons that have been diagnosed with HCM that when DNA tested were not positive for the gene.  This means that there is most likely more than one mutation in Maine Coons that causes HCM.
  • Ragdolls:  In 2007, a different gene mutation for HCM was identified in Ragdolls.  To date, all Ragdolls confirmed with HCM by ultrasound have also tested positive for the Ragdoll HCM gene mutation, suggesting that there may be only one mutation in Ragdolls that predisposes the cat to develop HCM.

HCM can also result from other diseases so when HCM is diagnosed other causes such as high blood pressure or thyroid problems must be ruled out.

In humans, over 130 mutations spread over 10 genes that lead to HCM have been identified,
suggesting there could be more than one HCM gene mutation in any single breed of cat.
The gene which causes HCM is not the same from one breed to another, therefore,
neither of the DNA tests for detecting HCM in Maine Coons or Ragdolls is
applicable to other breeds of cats. 

Research To Identify Other HCM Gene Mutations

Mutations responsible for HCM in breeds of cats other than the Maine Coon and Ragdoll have not yet been identified.  If or when HCM gene mutations are identified in other breeds, they won't be the same mutations that cause this disease in Maine Coons or Ragdolls.

There is currently ongoing research looking for further mutations that may contribute to HCM in Maine Coons and Ragdolls, along with other breeds in which a higher prevalence of HCM has been reported or suggested.  The breeds include Persians, Bengals, Norwegian Forest Cats and Sphynx.

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