When Dr. Ackerman joined the Mayo Clinic in 2000, he started what is now known as the Windland Smith Rice Genetic Heart Rhythm Clinic where he sees patients and families with genetic heart diseases like HCM. Dr. Ackerman feels strongly that early and accurate detection is vital. The statistics are staggering: HCM is the most common genetic heart disease, affecting an estimated 1 in 500 people and possibly as high as 1 in 200.*[1],[2] It has also been estimated that ~700,000 adults in the US have HCM, yet ~85% of those adults may remain undiagnosed^, as the symptoms and the course of disease may vary across patients.[3]
What are the symptoms of HCM?
HCM is a diverse disease and can be a diagnostic challenge for doctors because the presence of the disease varies from each patient, and the symptoms are sometimes nonspecific and may develop very gradually. Patients may also be asymptomatic or may have mild, nonspecific symptoms and are sometimes identified unintentionally; moreover, when HCM symptoms do appear, they may be difficult for doctors to recognize because they are similar to other health conditions.[4],[5] Symptoms of HCM can include shortness of breath, tiredness, chest pain, rapid heartbeat, fatigue, and dizziness.[6] However, Dr. Ackerman notes that patients can have just one symptom or multiple symptoms. Many times, HCM can mimic other conditions such as asthma, anxiety, hypertension or coronary artery disease.
How is HCM diagnosed?
In the event that your doctor determines that your symptoms warrant additional tests, there are options that are noninvasive and can help determine if the heart is thicker than it should be and provide an accurate diagnosis. To make an HCM diagnosis, your doctor must look at your heart and may conduct several tests, including:
An echocardiogram or “echo,” a heart ultrasoundAn MRI of your heart when an echocardiogram doesn’t provide all the information your doctor needs to confirm or rule out HCMGenetic testing to determine if there is an identifiable genetic cause for the HCM
If you are diagnosed with HCM, your family members may want to talk to their healthcare provider about this condition.
What are the management strategies for HCM?
After an HCM diagnosis, the next move is to understand what the risks may be, explains Dr. Ackerman: “What’s your heart looking like? What risk factors are present?” Based on your prognosis, doctors can determine your risk and work with you to come up with a plan to manage your HCM that suits you.
Living with HCM
HCM can impact people in different ways. Dr. Ackerman believes patients should keep doing the things they love that are reasonable within their health. That’s how he helped one of his patients, Jared Butler, when he came to Dr. Ackerman looking for further evaluation and guidance. Butler, a college freshman and rising basketball star, had recently been diagnosed with HCM after following a routine initial examination given to Division I athletes at his then-college. The diagnosis was devastating and put his dreams of playing professional basketball in jeopardy. After an assessment, Dr. Ackerman partnered with Butler to help manage his HCM, ultimately allowing him to continue playing basketball. Of course, he continues to work together with Butler to closely monitor his HCM. Butler’s story, while not typical for HCM patients, serves as a reminder about the importance of understanding your diagnosis and advocating for your health, especially after an HCM diagnosis. It’s important to reiterate that HCM impacts patients differently; patients need to work closely with their doctor to develop a management strategy that works for them. Symptoms most commonly associated with HCM may include sudden fainting, shortness of breath, and chest pain, especially during or shortly following exertion or exercise. If you are experiencing any of these symptoms or if someone in your family was diagnosed with HCM, it’s important to talk to your healthcare provider to learn more. Symptoms can be representative of many conditions. Only a healthcare provider can determine whether these symptoms indicate HCM or another condition. To learn more about HCM, visit CouldItBeHCM.com.
- CARDIA study (published in 1995) is a multicenter, US-population-based echocardiography study of 4,111 subjects (aged 23-35), identified the prevalence of HCM as 1:500 people in the general population. The 2015 Semsarian publication identified that the prevalence of HCM-gene carriers could be as high as 1:200.1,2 ^ Based on a 2013 ICD-9 claims database analysis (N = 169,089,614) that estimated/concluded: 1. ~ 600,000 patients with undiagnosed HCM (based on analysis’ assumption that 1 in 500 prevalence represents clinically unrecognized cases), 2. ~100,000 patients with diagnosed HCM (based on 2013 US Census population and the ratio of 59,009 patients with a claim for HCM over the total N, stratified by age/gender), and 3. ~700,000 overall US prevalence of HCM.3 References [1] Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation. 1995;92(4):785-789. [2] Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1249-1254. [3] Maron MS, Hellawell JL, Lucove JC, Farzaneh-Far R, Olivotto I. Occurrence of clinically diagnosed hypertrophic cardiomyopathy in the United States. Am J Cardiol. 2016;117(10):1651-1654. [4] Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2020;142(25):e558-e631. [5] Argulian E, Sherrid MV, Messerli FH. Misconceptions and facts about hypertrophic cardiomyopathy. Am J Med. 2016;129(2):148-152. [6] University of Maryland Medical Center. Hypertrophic cardiomyopathy types, symptoms and causes.
