Hypertrophic Cardiomyopathy and the Hypertrophic Cardiomyopathy Association

Lisa Salberg, Founder and President Hypertrophic Cardiomyopathy Association

Lisa Salberg, Founder and President Hypertrophic Cardiomyopathy Association

While it is true that nearly 40% of the cardiac deaths on the playing field are from HCM,4 it is not only athletes who die young from this disease, they simply capture the headlines in a striking fashion. The advances in public access automatic defibrillation (AED) have increased the occurrences of out-of-hospital resuscitation and the opportunity to bring those with sudden cardiac arrest from all causes, including HCM, to medical attention and treatment with implantable defibrillators. The efforts of AED advocates and public access defibrillation programs (PADs) should be commended. However, AED placement and appropriate utilization in the HCM population should not be viewed as the best manner in which we identify young patients. The Hypertrophic Cardiomyopathy Association (HCMA) works with families, patients and the medical community in providing advocacy, education, and support. The HCMA was created in 1996 in response to the death of the fourth member of the Founder's family from HCM. Since then, the HCMA has grown to serve thousands of HCM families as well as thousands of medical professionals. The HCMA's services to patients and families include an interactive website (www.4hcm.org), which includes accurate and balanced information about the disease, lifestyle issues, family screening, and general support. The HCMA facilitates an annual meeting where patients can interact with others with HCM and the top researchers and physicians in the field to address questions and gather one-on-one support. The HCMA also provides educational materials and runs programs for the medical community in coordination with our world-renowned medical advisors. The need for greater general public awareness of HCM will clearly lead more patients to diagnosis and treatment; thus, the HCMA is working to gain recognition for this not uncommon disease, which is present in approximately 500,000 Americans, most of whom have no idea. In the past 10 years, the HCMA has had the opportunity to work with thousands of families and make some rather interesting observations in the areas of challenges in diagnosis, access to family screening, varied treatment options based on socioeconomic and geographic factors, and overall understanding of HCM within the medical community. Of our patient/family membership, the average HCM patient has struggled with misdiagnosis for a period of up to 35 years (an average of four years), and these misdiagnoses include mitral valve prolapse (MVP), athletically/exercise-induced asthma, depression, panic attack, innocent murmur, and hypochondria. Once patients have been appropriately identified with HCM and treatment has begun, patients experience a significant improvement in overall quality of life. Patients who have been evaluated by an HCM center of excellence (a list is available on the HCMA's website) have a much greater likelihood of receiving care consistent with the ACC/ESC consensus document on the treatment and management of HCM. When these patients follow up with community-based cardiologists/electrophysiologists and physicians, and maintain regular communication with the HCM center of excellence, visits to emergency departments are dramatically decreased and patients return to work and/or normal activities in many cases with minimal restrictions. Those patients who have not consulted with an HCM center of excellence are often on pharmacologic treatments that are inconsistent with the ACC/ESC consensus document,5 lack a full-scope understanding of their disease and need for family screenings, are more likely to miss more time from work and participation in family activities, and feel isolated from peers when compared to their patient counterparts who have been evaluated by an HCM specialist. Of significant concern to the HCMA is the high number of cases of young people (aged 8 - 35 years) diagnosed originally with athletically/exercise-induced asthma. This is the single most common complaint we hear from parents of children who have died on the playing field. When questioned if their child had ever received pulmonary function testing to prove conclusively that asthma was the cause of the shortness of breath, less than five percent report any pulmonary testing at all, and those that were tested report inconclusive findings of this testing. This is a particularly troubling issue, as many of these children have been prescribed inhalers containing stimulants, which may have catastrophic consequences. It appears that if electrocardiograms were given to children who report shortness of breath upon exercise, we would likely identify those with underlying heart disease. Along a similar theme, the recent controversy over sudden deaths in children taking medications to treat Attention Deficit Disorder (ADD) and Attention Deficit Hyperactivity Disorder (ADHD), including Adderall, Concerta®, and Ritalin, was brought to the HCMA's attention. Of 12 deaths in children (aged 7 - 16 years, mean 12.5 years) reported, eight deaths indicate that these children had underlying structural heart disease. Of these deaths, one was autopsy-confirmed HCM (idiopathic hypertrophic subaortic stenosis, or IHSS), and five were suggestive of possible HCM with poor or limited post-mortem data available or other structural heart disease. Cardiac risk factors listed in this report included three with cardiac hypertrophy, three with a history of heart murmur, one with a mother with a history of a ventricular arrhythmia, one with a bicuspid aortic valve, and one with aberrant origin of coronary artery.6 This opens up the question of whether there should be a larger effort to require electrocardiograms (ECGs) on all children prior to beginning a regimen of these powerful stimulants. There continues to be gender disparities in the diagnosis of HCM. As HCM is an autosomal dominant genetically transmitted disease,7 the occurrence of the disease is equal. The average age of diagnosis for patients with HCM is dependent upon gender, with men averaging 34 years of age at diagnosis (birth to 77) and women averaging 38 years of age (birth to 81). Interestingly, women have reported to the HCMA that they feel symptoms on average at the same time or even slightly before men do, but are often dismissed by the healthcare community as having non-cardiac causes for their complaints. To better understand some of the problems this patient population was facing, the HCMA directed its attention to healthcare professionals in the cardiology arena. At the 2005 American Heart Association (AHA) Scientific Sessions, 2006 American College of Cardiology (ACC) Scientific Sessions, and the 2006 Heart Rhythm Society (HRS) Scientific Sessions, the HCMA conducted a survey of attendees. The purpose of the survey was to gauge the overall understanding of the prevalence of HCM, the timing of screenings in HCM families for adults and children, and the risk factors for sudden cardiac arrest in HCM, along with demographic information on the participants. We surveyed 432 individuals, including cardiologists, electrophysiologists, nurses, and other allied professionals. The survey consisted of 11 questions, targeting disease prevalence, risk factors for sudden death, and surveillance with serial echocardiography. The survey responses of the cardiologists revealed that 36% correctly recognized the 0.2% (1 in 500) prevalence of HCM in the general population. While 43% incorrectly answered, they believed the prevalence to be 1 in 2,500, and 21% thought it to be 1 in 10,000. Of the known risk factors for sudden death, only 16% of these respondents identified all six. The degree to which individual risk factors were correctly identified were quite varied and included prior cardiac arrest (84%); family history of SCD (81%); ventricular arrhythmias (74%); > 3 cm left ventricular wall thickness (73%); hypotension or blunt blood pressure with exercise (42%); or recurrent syncope (61%). Adherence to the ACC/ESC document on the management of HCM5 regarding screenings of first-degree relatives in HCM families is not being followed in a staggering number of practices. Appropriate clinical and echocardiographic monitoring every 12 - 18 months from age 12 through age 18 was recognized for children in only 55% of respondents, with 14% believing one screening during adolescence was adequate and 31% believing that screenings every 3 - 5 years from age 13 to 16 were adequate. In regards to screening in adults, forty-six percent of respondents recognized adults in HCM families need to be evaluated every five years (or immediately in the presence of cardiac symptoms); rather surprisingly, fifty-one percent believed that annual screenings were needed in adults and three percent replied that adults in HCM families never need to be screened. Of the respondents, seventy-five percent admitted to actively caring for one or more patients with HCM; however, only 49% acknowledged management of more than five such individuals. This survey confirmed our suspicions that healthcare specialists have a general lack of understanding regarding the prevalence, risk factors for sudden death, and diagnostic screening practices in individuals afflicted with HCM, as well as their family members. The lack of appreciation for HCM among healthcare providers is understandable. This is a heterogeneous disease that has been appropriately nicknamed the great masquerader, and has been fraught with nomenclature issues, with no fewer than 70 names being attributed to HCM in the past 50 years. The task now for the medical community and the HCMA is to work toward a better means of identifying patients, guide them to quality care, and begin the daunting task of identifying the 500,000 patients in the United States who are currently living with HCM.