Six or so years ago, Spear had never heard of hypertrophic cardiomyopathy. When she noticed herself struggling to catch her breath during a spin class back in 2016, she chalked it up to aging. “You start feeling more tired and you think ‘Oh, I’m getting older, maybe that’s it,’” she remembers.

But one day in 2017, Spear passed out at home. Luckily her daughter Jesse, then 22, was there and brought her to the hospital. Tests revealed atrial fibrillation, or a-fib, a heart rhythm disorder that occurs when the heart’s upper chambers quiver rather than squeeze and its lower chambers contract irregularly, often too fast. 
 
But that wasn’t all. Spear’s Northwell cardiologist at the time, Sanjiv Jhaveri, MD, suspected another condition might be behind Spear’s symptoms: obstructive hypertrophic cardiomyopathy, which can cause thickening of the walls of the left ventricle, the heart’s main pumping chamber. Cardiac magnetic resonance imaging (MRI) confirmed the diagnosis. 

The most common type of genetic heart disease, hypertrophic cardiomyopathy affects an estimated one in 500 people worldwide. It’s associated with an increased risk for a host of cardiac problems, including:

“Mindy had limited options that could restore her to a normal level of activity,” Dr. Wharton says. He presented Spear with two options. She could have a septal myectomy — open-heart surgery that could remove some of the thickened tissue in her heart and potentially alleviate her symptoms. Or she could try something new. 

Mavacamten (Camzyos), the first medication designed specifically for obstructive hypertrophic cardiomyopathy, was about to receive FDA approval, Dr. Wharton told her. The drug wasn’t time-tested the way surgery was; Spear would have to be closely followed to make sure her dosage was correct and that she didn’t develop side effects, including potential heart failure. But the results of clinical trials had been promising. Did she want to try it?

Spear wrestled with the question. Taking a brand-new drug sounded scary — although not as scary as the prospect of open-heart surgery.

In the end, “I didn’t want surgery,” she says. She’d give the new drug a try.

Over the past 20 years or so, researchers have been trying to develop targeted treatments for people with obstructive hypertrophic cardiomyopathy. Mavacamten is one of the first therapeutics to come out of that effort. It targets cardiac myosin, a protein that regulates the force with which the heart contracts.

People with obstructive hypertrophic cardiomyopathy have too much active myosin, which causes the heart to squeeze with excessive force and the walls of the left ventricle to thicken and grow. Myosin inhibitors like mavacamten reduce the excessive contractions and the problems they cause. Results have been impressive: Myosin inhibitors improved symptoms in about two-thirds of patients in clinical trials. 

“These therapies could revolutionize the way we treat this disease,” says Dr. Wharton. “If we can target the source of the problem directly, we’re going to be able to help a lot more patients.”

Dr. Wharton closely followed the studies on mavacamten, and as soon as it received FDA approval he started working on getting his patients access. One of them was cleared to take it — becoming the first person in the country to receive it outside of a clinical trial. “It was pure serendipity,” says Dr. Wharton.

Spear soon followed. “It was approved on a Friday and Dr. Wharton called me on Monday,” she says. “He said, ‘Let’s get you on this.’” She took her first dose on a Wednesday — and by her next appointment, about a month later, wasn’t huffing and puffing anymore when she walked down the driveway. “It blew me away,” she says. “My energy level started changing right away.”

Spear’s follow-up echocardiogram showed why she was feeling better — her blockage had receded and the blood flow in her heart had returned to normal. “We saw a dramatic reduction in the obstruction of blood flow from her heart to her aorta,” Dr. Wharton says.

Spear wasn’t the only one of Dr. Wharton’s patients who experienced a turnaround. “For the first time, my patients are getting enormous relief from their disabling shortness of breath without the need for surgery,” Dr. Wharton says. “It’s really extraordinary.” 

Last August, four months after starting mavacamten, Spear took her first 45-minute spin class in five years. “Physically it was tough, but I went at my own pace and made it through without stopping,” she says. She now starts her days with a long uphill walk by the beach; twice a week, she works out with a trainer.  “All of a sudden, I’m doing some real physical training,” Spear says. Her grandson’s too old for the stroller now, but she’s able to keep up with him as he runs around.

Just a year ago, none of it would’ve been possible. “This drug has been a life-changer,” Spear says. “I can’t really believe it, but I feel back to my normal self.”