Novel genetic variant results in coronary heart illness in Maine Coon cats

Janson was alerted when one of her pets, Reggie, a blonde purebred Maine Coon, was suddenly diagnosed with hypertrophic cardiomyopathy (HCM), commonly known as an enlarged heart, in March 2017. HCM leads to thickening of the muscle walls of the heart, congestive heart failure or other complications such as blood clots in large blood vessels over time. Approximately 30% of Maine coon cats have a genetic mutation that predisposes them to HCM.

Desperate to save her beloved pet, Jason investigated the subject and came across a research article discussing a drug called mavacamten (MYK-461) and a role in fighting feline HCM. Sakthivel Sadayappan, PhD, professor at UC College of Medicine and shown in the photo above, was listed as the editor of the article. Unfortunately, Reggie died of heart failure in April 2017 at the age of three. The Jasons owned a 10-year-old cat, Nigel, who was related to Reggie, and they feared he might also have the HCM gene mutation.

The family contacted Sadayappan, who along with his postdoctoral fellow James McNamara, PhD, tested Nigel and found that he did not carry the HCM mutation. A few months later they bought a Maine Coon kitten, Freddie. At first, Freddie appeared to be healthy, but soon developed a heart murmur as well.

“Ms. Janson reached out to me for help with the treatment and diagnosis of her cat, Freddie,” says Sadayappan, also scientific director of the UC Heart, Lung and Vascular Institute. Raccoons started being the subject of our latest research into hypertrophic cardiomyopathy in cats. “