Targeted next-generation sequencing identifies variants linked to feline hypertrophic and restrictive cardiomyopathy

Variants in sarcomeric genes ACTC1, ACTN2, MYH7, TNNT2 and non-sarcomeric CSRP3 associate with both hypertrophic and restrictive cardiomyopathy in two feline cohorts (across-breed and Birman cats), targeted by next-generation sequencing. Shared genetic backgrounds suggest common pathogenic mechanisms and inform early screening and breeding strategies.

Journal: Scientific Reports
Sample Size: Two feline cohorts (across-breed and Birman cats)
Study Type: Targeted next-generation sequencing study
Published: 2025
Species:

Key Findings

  • Variants in sarcomeric genes ACTC1, ACTN2, MYH7, TNNT2 associated with both HCM and RCM
  • Non-sarcomeric CSRP3 gene also associated with both cardiomyopathies
  • Partial overlap in genetic backgrounds suggests shared pathogenic mechanisms
  • Identifying shared variants may facilitate early screening and inform breeding decisions

The problem

The problem is that hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) are two serious heart diseases in cats that often go undetected until symptoms are advanced. You cannot easily tell if your cat is at risk based on appearance or routine checkups. Until now, there has been no reliable way to identify cats with hidden genetic risk for these conditions before heart damage occurs.

How common this is

Cardiomyopathies are among the most frequent causes of heart failure in cats, especially as they age. While exact percentages were not reported, HCM is the most diagnosed heart disease in domestic cats, with RCM less common but often more severe. Many cats show no symptoms until sudden collapse or breathing distress. Genetic risk can affect both purebred and non-pedigree cats, so no group is excluded. Owners often discover heart disease only after emergency symptoms appear, making early detection crucial.

What the research found

The study found variants in four sarcomeric genes—ACTC1, ACTN2, MYH7, and TNNT2—associated with both HCM and RCM in cats. This means that mutations in these genes, which help control heart muscle contraction, may drive disease risk for both conditions. The non-sarcomeric gene CSRP3 was also linked to both cardiomyopathies. In plain terms, CSRP3 influences other structural aspects of heart cells, so its involvement points to a broader genetic basis. There was partial overlap in genetic backgrounds between HCM and RCM cases. Practically, this suggests some cats may inherit risk for both forms of heart disease. Identifying these shared variants can allow earlier screening before symptoms develop. In plain terms, you could know your cat’s risk years before heart changes appear. The findings support using genetic testing panels to find at-risk cats and guide breeding programs. This means breeders and owners have a tool to reduce disease in future generations.

Why this matters

At home: You want to avoid the trauma and high costs of emergency care for your cat’s heart disease. Early genetic screening means you can watch for subtle changes, adapt your cat’s lifestyle, and plan medical care before symptoms become critical. For example, you could catch heart disease risks in your young Birman kitten and work with your vet on monitoring. In another scenario, a middle-aged domestic shorthair with a genetic variant might get annual heart ultrasounds, avoiding sudden heart failure later. Peace of mind improves when you know your cat’s risk and have a prevention plan.

With your veterinarian: Your vet can use genetic panel results to recommend tailored monitoring, such as scheduling echocardiograms every year for at-risk cats. This cuts down on unnecessary tests for low-risk cats while focusing resources where needed. Costs are lower when disease is found early—medications and monitoring cost far less than emergency hospitalization. If you breed cats, you can use genetic results to avoid mating pairs with overlapping risk, protecting future litters from inherited heart disease.

What you can do

  • Request a comprehensive genetic screening panel for HCM and RCM-associated genes (ACTC1, ACTN2, MYH7, TNNT2, CSRP3) for your cat, especially if purebred or breeding.
  • Schedule annual echocardiograms for cats identified with risk variants, starting at one year of age.
  • Track your cat’s breathing and activity level weekly using a notebook or pet health app if they have a known genetic risk.
  • Discuss tailored diet and exercise plans with your veterinarian for cats with identified heart disease variants.
  • If you breed cats, review genetic panel results before choosing mating pairs and avoid breeding cats carrying multiple risk variants.
  • Keep a record of all genetic and cardiac test results to share with specialists if symptoms develop.
  • Ask your vet about medication options for pre-symptomatic cats with high-risk gene variants.

When to act

  • At age one—request genetic screening panel if your cat is purebred or has family history of heart disease.
  • After receiving a positive genetic test result—schedule first echocardiogram within one month.
  • If your cat shows labored breathing, sudden lethargy, or fainting—contact your veterinarian the same day.
  • Before breeding—review both parents’ genetic panel results and discuss with a veterinary geneticist.
  • At each annual wellness exam—update your cat’s heart monitoring schedule based on latest test results.

Study limitations

  • No percentages or counts of cats with each variant reported.
  • Sample included two cohorts: across-breed and Birman cats only.
  • Functional validation of variants is still needed to confirm how changes cause disease.
  • Larger study populations required to assess how often these gene variants lead to actual heart disease.
  • What we don’t know yet: Whether these findings apply to all breeds and crossbreeds.

Bottom line

Genetic screening for shared HCM and RCM variants lets you find heart disease risk before symptoms appear. Early action means better monitoring, lower costs, and a longer, healthier life for your cat.

Your action plan

Start by scheduling a genetic screening for your cat, especially if you own a purebred or have concerns about heart disease in your cat’s family line. If results show a risk variant, book an echocardiogram within the next month and ask your veterinarian about the best schedule for future heart checks. Track any changes in your cat’s breathing or energy using a simple health log or app. If you breed cats, make genetic results a key part of your mating decisions, and avoid pairing cats with multiple risk variants to protect future litters. Discuss diet and exercise adjustments tailored to heart health with your vet, and keep all medical records organized for quick access if symptoms arise. Ask about medication options for cats with high-risk gene variants, even if they seem healthy.

Disclaimer

This information is for educational purposes and does not replace veterinary advice. Always consult your veterinarian for diagnosis and management decisions about your cat’s health.

Reference

Multiple researchers. "Targeted next-generation sequencing identifies variants linked to feline hypertrophic and restrictive cardiomyopathy". Scientific Reports. 2025. DOI: 10.1038/s41598-025-87852-5