Hypertrophic cardiomyopathy, also known as HCM, is the most common genetic heart disease and can affect the structure and function of the heart by thickening and stiffening the walls of the heart muscle, making it difficult for the heart to pump blood. It is estimated that HCM affects 1 in 500 people, with this number possibly reaching as high as 1 in 200.*,
Researchers such as Jil Tardiff, MD, Ph.D., professor of biomedical engineering, medicine, and cellular and molecular medicine at the University of Arizona College of Medicine and paid spokesperson for Bristol Myers Squibb, have studied HCM extensively over the past few decades and understand, how important it is to clear up common misunderstandings.
Misconception #1: HCM is easy to diagnose
Approximately 100,000 patients in the United States have been diagnosed with HCM, suggesting that approximately 85% may remain undiagnosed.^ Part of the reason for this gap in diagnoses? “There are other conditions that have symptoms similar to HCM, so it can be difficult to get an accurate diagnosis,” says Dr. tardiff Symptoms such as shortness of breath, dizziness, palpitations, and lightheadedness can all signal HCM—but they can also accompany many other health issues, such as anxiety, asthma, high blood pressure, or coronary artery disease.
HCM also varies widely from patient to patient, which can make diagnosis difficult. dr Tardiff explains that the symptoms aren’t always consistent — some patients may feel them one day and not experience them at all the next day. Some people have no symptoms at all (but may have been identified through genetic testing if a family member has the disease), others may have a moderate course of the disease, and others may have acute symptoms. For all of these reasons, HCM can be difficult to diagnose. Helping people understand the disease and when to talk to their doctor about their symptoms is an important first step in identifying HCM.
Misconception #2: HCM primarily affects younger male athletes
HCM often makes headlines when a young male athlete dies suddenly from undiagnosed HCM while playing a sport, which may have led some to believe that the disease primarily affects younger male athletes (the incidence rate of sudden cardiac death is less than than 1% on). of HCM patients per year). While these incidents are undoubtedly tragic and understandably stick out in people’s minds, they don’t tell the whole story.
In fact, HCM can affect anyone – regardless of age, gender or ethnicity. dr Tardiff explains that HCM can appear in late adolescence or early adulthood. “In my practice I see everyone from 20 to 85 years old – men and women,” says Dr. tardiff “It goes across the entire spectrum.”
Misconception #3: HCM has a high mortality rate
“The first thing I ask my patients is, ‘Have you Googled it?'” says Dr. tardiff “And if they and [have seen information indicating a high mortality rate]I assure you that you have every expectation that this is a manageable disease.” Although the risk of sudden cardiac death is rare, it is still significantly higher for both younger and older people with HCM compared to the general population , the all-cause mortality rate is estimated at just 0.5%.†
While there are devastating stories of people who suddenly lost their lives to HCM, there are many other cases of people living full lives with HCM. As with many diseases, early diagnosis is crucial, as is finding the right specialist to oversee your treatment. If the disease is caught early and a personalized treatment plan is created by a cardiologist, the disease can be manageable.
Symptoms most commonly associated with HCM include sudden fainting, shortness of breath, and chest pain, particularly during or just after exercise or exercise. If you experience any of these symptoms, or if someone in your family has been diagnosed with HCM, it’s important to speak to your doctor to learn more. The symptoms can be representative of many diseases. Only a doctor can determine whether these symptoms indicate HCM or another condition.
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Misconception #4: Diet and exercise can prevent HCM
Proper diet and exercise can go a long way in fighting off common ailments and diseases like high blood pressure, diabetes and stroke, but they cannot prevent HCM. It’s important for someone with HCM to discuss with your doctor a plan that will work best for you when considering diet and exercise.
Why it’s important to clear up common misconceptions
While it’s understandable that misconceptions about HCM can arise, says Dr. Tardiff that taking the time to dispel them is important, especially as our knowledge of the disease continues to increase. “Misconceptions about HCM can unnecessarily scare patients,” she says. “Some patients who are referred to me keep canceling their appointments [out of fear].” This can cause delays in the supplies they need.
Visit CouldItBeHCM.com to learn more.
National Library of Medicine
* The CARDIA study (published in 1995) is a multicenter US population-based echocardiographic study of 4,111 subjects (aged 23 to 35 years) that identified the prevalence of HCM at 1:500 in the general population. The 2015 publication by Semsarian found that the prevalence of HCM gene carriers could be as high as 1:200.
^ Based on a 2013 analysis of the ICD-9 claims database (N=169,089,614) which estimated/concluded: 1. ~600,000 patients with undiagnosed HCM (based on analysis assumption that 1 of 500 prevalence representing clinically unrecognized cases), 2. ~100,000 patients diagnosed with HCM (based on 2013 U.S. Census population and the ratio of 59,009 patients eligible for HCM versus total N stratified by age/gender) and 3 ~700,000 total prevalence of HCM in the US.
† Data from the ShaRe registry (Sarcomeric Human Cardiomyopathy Registry) database was compared to the Centers for Disease Control and Prevention’s WONDER database to estimate mortality rates in the US general population from 1999 to 2014.
 Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, picture DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Traffic. 1995;92(4):785-789.
 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.
 O’Mahony C, Elliot P, McKenna W. Sudden cardiac death in hypertrophic cardiomyopathy. Circulatory system: arrhythmia and electrophysiology. 2013;6(2):443-451.