is hcm in cats hereditary

In classic terms, HCM due to sarcomeric mutations is inherited as an autosomal dominant (Mendelian) trait. This means that children of a parent with a causal mutation and a parent without the mutation will have a 50/50 chance of inheriting the mutation (will be heterozygous) and thus will be at risk of developing HCM.

The single base pair mutation in MYBPC3 known as the Ragdoll HCM mutation, or R820W, is thought to change the structure and functionality of this crucial protein for healthy heart muscle development. Human HCM and left ventricular non-compaction have been linked to the same R820W mutation (see reference below, Ripoll et al. 2010). According to recent research, cats who carry the mutation in heterozygous form (one copy) are unlikely to exhibit symptoms and may even have a normal lifespan. Cats with the mutation who are homozygous (2 copies) are more likely to die from heart failure early in life and are more likely to exhibit severe hypertrophic cardiomyopathy symptoms between the ages of 1-2 years. Infrequently, homozygous cats do not show clinical signs of HCM.

Phenotype: Sudden cardiac death is a risk for cats with hypertrophic cardiomyopathy (HCM). When two copies of the disease-associated mutation are present in Ragdoll cats, they are more likely to experience early cardiac death and severe HCM symptoms, which typically appear between the ages of one and two years. Cats with one copy of the mutation are unlikely to exhibit symptoms of the illness and might have a typical lifespan.

Numerous studies show that the genetic mutation is fairly common in Maine coon cats, with approximately 3% of Maine coons carrying the mutation. The disease is referred to as having “incomplete penetrance”. This implies that even in the event that a cat carries the genetic mutation, the mutation might not truly “penetrate” or cause the cat to develop the full disease.

Your cat’s results will be sent to you after the DNA test, and they will indicate whether your cat is:

Negative: This indicates that the Maine Coon HCM genetic mutation is absent from your cat. This simply indicates that your cat won’t get HCM from the MC DNA mutation; it does not imply that it will never get HCM because there could be other causes of the illness.

Your cat is positive heterozygous if it carries one copy of the genetic mutation and one copy of a normal gene. Most of these cats in the Maine Coon never get sick. While we do not advise giving your pet any medication or further monitoring, a cardiologist evaluation is advised if your veterinarian ever finds any indications of heart disease, such as a murmur.

The majority of Maine Coons get the disease after turning three, but some don’t get it until much later (6–8 years old). A single base pair in the DNA is altered by the Maine Coon DNA mutation.

FAQ

Does HCM run in families?

HCM sometimes runs in families. In such cases, a child of an affected parent has a 50% (1 in 2) chance of having HCM. Other family members also have an increased chance of having HCM.

Can you prevent HCM in cats?

Unfortunately, no therapy has been shown to prevent the progression of HCM when started before clinical signs are observed.

Is hypertrophic cardiomyopathy usually inherited?

Inheritance. Familial hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms.

What breed of cat is predisposed to HCM?

In cats, this disease is more prevalent in Ragdolls, Maine Coons, oriental breeds (Himalayan, Burmese, Sphynx, Persians) and Devon Rexes, but it is also commonly diagnosed in Domestic Short Hair cats.