Hypertrophic cardiomyopathy: a Q&A with Marie-Laure Papi

Q: What is hypertrophic cardiomyopathy (HCM)?

A: HCM is a chronic, progressive cardiovascular disease. Patients with HCM have a heart muscle that is working under increased amounts of force, and, like any muscle, this causes an increase in size, called hypertrophy. 

There are two types of HCM – obstructive and non-obstructive. In obstructive HCM, the more common type, the left ventricular outflow tract (LVOT) where blood leaves the heart becomes obstructed by the enlarged heart muscle, making it difficult for blood to circulate to the rest of the body. In non-obstructive HCM, the muscle doesn’t block blood flow, but rather causes diastolic impairment because of its enlarged, stiff nature.  

Q:  How does HCM impact the lives of patients living with the disease?

A: HCM has a high morbidity rate and impact on patient life. The disease is often inherited – meaning it runs in families – and is the most common form of genetic heart disease. It can happen at any age, but patients are typically diagnosed in their 40s or 50s and the treatment is expected to be chronic, or lifelong. 

Patients with HCM may experience chest pain, irregular heartbeat and palpitations, shortness of breath, fatigue and fainting, among other symptoms, which may impact a patient’s day-to-day activities. HCM patients are also at a higher risk for serious cardiovascular events like atrial fibrillation, stroke, heart failure and sudden cardiac death. 

Q: What unmet need currently exists in the HCM community? 

A: Interestingly, while the genetics of HCM are fairly common – affecting one in every 500 people – only up to 25 percent of patients living with it are diagnosed, and for those who are diagnosed, there aren’t any currently approved medicines that can treat the underlying cause of the disease. It’s important that we continue to educate and inform people about HCM so that patients understand the risk factors for this disease and can discuss it with their physician. 

Currently, treatment options range from therapies such as beta blockers and calcium channel blockers that reduce heart rate, to surgical interventions. However, even with medical or surgical treatment, the disease oftentimes continues to progress.

This indicates that there is a real and urgent need for options that treat the underlying cause of HCM in patients. Our research is working to target the molecular mechanisms of the disease, rather than just managing its symptoms, like the current standard of care.

Q: As an employee of BMS for more than two decades, what excites you about the company’s work in this space? 

A: I’ve spent the last twenty years with the company and have seen firsthand, the true impact – at scale – that the work we’re doing here at Bristol Myers Squibb has on the lives of patients around the world in a wide array of disease states. I’m incredibly proud of our commitment to advancing research and new treatment options, as well as raising awareness of cardiovascular diseases, in order to improve the lives of patients and their loved ones.