Anjali Owens, MD: Michelle, what is the importance of making a prompt and accurate diagnosis? What does it mean for a patient to be able to do that?

Michelle M. Kittleson, MD, PhD: When you think about hypertrophic cardiomyopathy (HCM), patients are typically young at presentation and they have symptoms that can impact their quality of life, their functional status, their safety and ability to exercise…. I think that the ability to identify the source of the symptoms is then critical to guide management of symptoms, risk stratification for sudden cardiac death, as well as assessment of siblings and offspring. So for all of those reasons, when you’re faced with a young person, it’s critical to figure out if they’re dealing with HCM—if it’s obstructive, if it’s symptomatic, and what are the next steps to make it better.

Anjali Owens, MD: Jim, this is often a very heavy moment in clinic when you’re giving a patient a diagnosis or confirming their diagnosis. As Michelle said, some of our patients come in with misconceptions about what hypertrophic cardiomyopathy means for their life. They’re afraid that it’s a death sentence. It’s a moment in time for education and for really partnering with a patient who has a lifelong disease. How do you approach that in clinic? What do you think are the consequences of giving a patient a diagnosis?

James Januzzi, MD: Yes, it’s a really heavy moment sometimes because it does come with considerable anxiety and confusion. People may jump into their phone and immediately look up the diagnosis and get terrified by what they read. It’s critically important to educate and reassure our patients. A core principle that I try to tell my patients is that, in most patients, hypertrophic cardiomyopathy is not only treatable but also compatible with the normal longevity. And not only normal longevity but with good quality of life, right? It’s both length of life as well as quality of life that I think we need to focus on, but they are important issues to address. The first is getting the family in and getting the family screened to understand if others are affected, including the so-called genotype, positive phenotype, people who need to be followed over time. For the person with the diagnosis, there are lifestyle adjustments that might be necessary. I see a lot of sports medicine referrals, for example. Unfortunately, particularly in extreme endurance. such as sprinting for the finish line. when we increase our output that’s a time when people with HCM may be at risk for sudden death. So it’s important to have clear discussions around participation in sports activities. Shared decision-making now is the name of the game, however, and many of our patients with HCM are able to engage in athletic situations. Importantly, they must be careful not to approach those risk behaviors that might be associated with sudden death. In addition, we educate carefully about the medical therapy options, which we’ll be talking about because the toolbox is getting more and more full of both medical and interventional options for our patients.

Transcript is AI-generated and edited for clarity and readability.