Imagine your family members were at risk for a life-threatening heart disease but had absolutely no idea.
At age 12, Carmen’s doctor noticed a heart murmur, but could not find an explanation. Little did they realize, but this symptom would turn out to be one piece in his family’s larger heart disease puzzle.
Beginning in 1982, several of his family members passed away unexpectedly with no identified cause. The first family member was Carmen’s maternal aunt, who passed away at the age of 50. In 1998, over 15 years after the first sudden death, Carmen’s cousin died at the age of 53 while out on a run, and the family finally discovered the cause: hypertrophic cardiomyopathy (HCM). HCM is a progressive cardiovascular disease that affects the structure and function of the heart and is often hereditary. People with HCM can suffer debilitating symptoms, like being short of breath, passing out, chest pain and a decreased ability to exercise, all of which can interfere with daily life. HCM can also lead to stroke, heart failure or — as had happened to Carmen’s aunt and cousin — sudden cardiac death.
After abruptly blacking out while at work one day, Carmen realized that his symptoms could be signs of HCM. He underwent genetic testing and was diagnosed with HCM in 2006. Since then, he’s had to give up his pizza shop and stop flying radio-controlled aircraft due to his worsening symptoms and the risk of passing out.
“The doctors told me I could no longer drive, or even ride a bike, for that matter,” Carmen said. “And although everything seems OK from the outside, I don’t always feel like myself on the inside.” In the years since his diagnosis, Carmen has become an advocate within his large extended family, connecting multiple generations to encourage testing and share disease information.
Recognizing HCM signs and symptoms
HCM is the most common inherited heart disease. It is estimated to affect approximately one in 500 adults in the United States.
Signs and symptoms of HCM include:
- Chest pain, commonly experienced during physical exertion
- Arrhythmias (irregular heartbeat)
- Shortness of breath
- Fatigue & lightheadedness
- Dizzy spells & fainting
Identifying early symptoms and receiving a diagnosis are crucial in managing HCM and implementing strategies to reduce risks associated with long-term complications. Many patients are prescribed heart failure medications to address certain symptoms. As HCM progresses, patients may need procedures, such as surgically implanted devices or open-heart surgery. For some, heart transplants may be the only viable option. Currently, there is no therapy available to treat the underlying cause of HCM, but there is increasing research in the field.
Talking to family about your genetic risk
Experts say that it’s not unusual that families aren’t aware they could be at risk for HCM until after a relative passes away. It is estimated that as many as 85% of individuals with HCM remain undiagnosed because many of the most common symptoms, such as shortness of breath and fatigue, overlap with other conditions.
It is important to talk to family about your genetic risks. With loved ones planning to gather in-person or connect virtually this holiday season, make time to discuss your family’s shared medical history. Specific questions to ask could include:
- Is there a history of chronic diseases, such as heart disease, or health conditions in our family?
- How old were individual family members when their chronic diseases or health conditions were diagnosed?
- For relatives who have died, what was the cause and age of death?
Share this information with your healthcare provider to explore your risk factors for disease. In Carmen’s case, after his family’s risk for HCM was discovered, his cardiologist was integral in finding ways to manage the disease, as well as identifying extended family members also at risk. Today, Carmen is grateful to have been diagnosed, and grateful that the increased connections with his extended family have helped him raise awareness of HCM risks and the importance of seeking diagnosis and treatment.
Knowing your medical history and whether you’re experiencing common signs and symptoms of HCM is an important first step of receiving care. For more information on HCM, please visit the American Heart Association.
This article is sponsored by MyoKardia, Inc.