Hypertrophic cardiomyopathy (HCM) affects all breeds of cat, with different genes responsible. Some of these have been identified and some not. Most cat breeders don't even test for it.
Sphynx hypertrophic cardiomyopathy (HCM) usually does not show up until they are an adult although the genetic mutation is present at birth. The age of presentation of disease is variable with many cats developing the disease between 2-3 years of age and some developing it much older (8 -10 years of age).
In December 2020, Dr Muers of North Carolina State University (NCSU) identified a DNA mutation in about 60% of affected Sphynx Cats. This mutation is also found occasionally in healthy adult Sphynx cats who do not have the disease. This referred to as “incomplete penetrance”. This means that even if a cat has the genetic mutation, the mutation may not actually penetrate or lead to the development in full disease in that cat. This is also a common finding in Maine Coons, Ragdolls and human beings with genetic mutations associated with Hypertrophic cardiomyopathy.
Importantly since this mutation only appears to have identified about 60% of affected cats, it appears likely that there is at least one other Sphynx cat HCM Mutation
DNA test results will indicate if the cat has the mutation on 1 copy of its 2 gene copies (called heterozygous) or both gene copies (homozygous). At this time, we do not know if the risk of developing disease is higher in cats that are homozygous for the mutation than heterozygous.
Sphynx Cat Hypertrophic Cardiomyopathy (HCM) Testing Price: USD$40.00 per cat
Shauntay Burris of Scantilly Clad Sphynx (TICA Sphynx Breed Committee member), has published the information below in relation to this new test.