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 gene associate with both hypertrophic and restrictive cardiomyopathy in two feline cohorts (across-breed and Birman cats), targeted by next-generation sequencing. Shared genetic backgrounds support early screening and informed breeding decisions.

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 conditions affecting cats, often with no early symptoms. Owners rarely know their cat is at risk until heart damage has progressed. Until now, there has been no reliable way to identify which cats are genetically predisposed before symptoms appear.

How Common Is This?

Cardiomyopathy is one of the most common heart diseases in cats, especially as they age. Hypertrophic cardiomyopathy affects both pedigree and mixed-breed cats, while restrictive cardiomyopathy is less frequent but still present across populations. Since most cases remain undetected until advanced stages, many owners only learn of the problem after a sudden event such as difficulty breathing or collapse. With no early warning, families often face unexpected emergency costs and shortened lifespans for their cats.

Research Findings

The study found that variants in four sarcomeric genes—ACTC1, ACTN2, MYH7, and TNNT2—are associated with both HCM and RCM in cats. This means that changes in these core heart muscle genes contribute to the development of both types of cardiomyopathy. The non-sarcomeric CSRP3 gene was also linked to both conditions. In plain terms, this gene impacts heart structure and function outside the main contractile proteins. The research identified partial overlap in genetic backgrounds between the two diseases. Practically, this suggests that some cats may be at risk for both forms of heart disease due to shared genetic factors. Identifying these variants makes early genetic screening possible. This means you can know whether your cat is predisposed before any physical symptoms show. The study included two separate feline groups—one across breeds and one focused on Birman cats—which strengthens the reliability of the findings. In plain terms, these results support broader screening panels and more informed breeding decisions.

Why Does This Matter?

At home

Early genetic screening means you can find out if your kitten or adult cat carries risk genes for heart disease before any symptoms occur. If you have a young pedigree cat, you can avoid the shock of a sudden diagnosis. For mixed-breed cats, knowing risk status helps you plan regular heart monitoring. One owner scenario: You adopt a Birman kitten and, through early testing, learn she carries a risk variant. With this information, you adjust her care plan and keep her heart health on track. Another scenario: Your senior cat is diagnosed with mild heart changes, and genetic results show no known risk variants. You gain peace of mind and can focus on routine wellness instead of intensive cardiac monitoring.

With your veterinarian

Your vet can use genetic results to tailor screening and management. If your cat tests positive for a variant, your vet may recommend annual echocardiograms starting at a younger age or adjust medication protocols. This approach can prevent emergency visits and reduce overall costs. For breeders, knowing which cats carry risk variants allows them to make informed choices that reduce disease prevalence in future litters. You get more control over your cat’s health journey, fewer surprises, and a better chance at a long, active life together.

What You Can Do

  • Request genetic screening for ACTC1, ACTN2, MYH7, TNNT2, and CSRP3 variants when adopting a kitten, especially from breeds known for heart disease.
  • Schedule annual cardiac exams (echocardiogram and auscultation) with your veterinarian for cats identified as genetically at risk.
  • Use pedigree screening tools if you breed cats, selecting mates without overlapping risk variants to reduce disease incidence.
  • Track your cat’s heart health with a dedicated log, noting weight, respiratory rate, and energy level monthly.
  • Share genetic results with your veterinarian to update your cat’s wellness plan or medication schedule.
  • Set calendar reminders for cardiac rechecks every 12 months for at-risk cats; increase frequency to every six months if early changes are detected.
  • Discuss options for advanced imaging or specialist referral if your cat develops symptoms or if genetic risk is high.

When To Act

  • At adoption—request genetic testing for heart disease variants.
  • At age one—schedule baseline cardiac exam for breeds with increased risk.
  • When genetic screening shows a risk variant—book echocardiogram within three months.
  • If your cat shows signs of lethargy, rapid breathing, or fainting—contact your vet immediately for cardiac assessment.
  • When breeding cats—complete genetic panel before selecting mating pairs.
  • After any abnormal cardiac exam—repeat imaging or testing every six months.

Study Limitations

  • The study used targeted next-generation sequencing in two specific feline cohorts: across-breed and Birman cats.
  • No functional validation of identified variants was performed.
  • Numbers of cats per group were not reported.
  • Larger sample sizes are needed to confirm how frequently these variants cause disease and how severely.
  • What we don’t know yet: whether these variants predict disease in all breeds with equal accuracy.

Bottom Line

Genetic variants in key heart muscle and structural genes link both major forms of feline cardiomyopathy. Early screening for these variants lets you and your vet take action before symptoms appear, improving your cat’s quality of life.

Your Action Plan

Start by requesting a genetic panel for your kitten or newly adopted cat, especially if she’s from a breed with a history of heart disease. Share the results with your veterinarian to plan cardiac exams and set up a monitoring schedule. If your cat tests positive for a risk variant, book an echocardiogram within three months and repeat annually. For breeders, use genetic information to guide mate selection and reduce risk in future litters. Track changes in your cat’s respiratory rate, weight, and activity using a calendar or app. If any early symptoms appear, move up your vet visit or ask about specialist referral. Setting reminders for annual or semiannual heart checks ensures you catch changes early and keep your cat’s heart healthy.

Disclaimer

This brief is for informational purposes only and does not replace professional veterinary advice. Always consult your veterinarian before making health or breeding decisions for your cat.

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