Should hypertrophic cardiomyopathy screening be part of a young athlete’s school physical? Dr. Jil C. Tardiff recommends starting with a thorough family medical history to assess HCM risk; the leading cause of sudden cardiac arrest in young people.
School physical season is in full swing, a time when busy parents, coaches and physicians juggle schedules and paperwork to allow athletes to safely “take the field.” Lurking in the background is a rare, but potentially fatal health risk.
Sudden cardiac arrest, while rare, is a significant cause of death in young people and can be caused by a pre-existing condition that could have been detected and, in some cases, managed to lower an individual’s risks.
The typical school athletic program requires athletes to obtain a physical exam that includes listening to the heart, checking blood pressure and reviewing family medical history. But is this enough? That may depend on the quality of the family medical history and what is done with that information if a cardiac risk is identified, says Jil C. Tardiff, MD, PhD, the University of Arizona Sarver Heart Center’s Steven M. Gootter Endowed Chair for the Prevention of Sudden Cardiac Death.
A professor of medicine in the Division of Cardiology and Department of Cellular and Molecular Medicine at the UA College of Medicine - Tucson, Dr. Tardiff’s research focuses on hypertrophic cardiomyopathy (HCM), which causes an abnormal thickening of the muscle in the heart’s main pumping chamber. HCM, a genetic condition that affects one in 500 people, is one of the more common causes of sudden cardiac arrest in young people.
“Taking a careful family history is an important step in assessing anyone’s risk of having a predisposition to HCM. It’s important to assess a person’s risk before an episode happens and patients need to be honest with their physicians about their symptoms. One of the difficult issues we face in evaluating a patient’s symptoms is that they can be unpredictable or dynamic in HCM and this can lead patients to minimize or discount them. Doctors can be guilty of this as well,” says Dr. Tardiff.
Doctors should ask about shortness of breath, especially with activity, dizziness or fainting episodes and any sudden deaths in family members, especially those who were around age 40 or younger. “Sometimes in cases of ‘accidental’ deaths, such as an adult drowning or a single-car wreck, we have to question whether sudden cardiac arrest could have been the underlying cause,” says Dr. Tardiff.
While the lack of a family history of sudden cardiac death does not rule out the diagnosis of HCM, it remains a central component in assessing risk. A person who may have HCM should be assessed by a cardiologist – ideally at least once by a cardiologist who specializes in HCM. Following a thorough family history and physical exam, the cardiologist who suspects HCM should order an electrocardiogram (ECG) and a transthoracic echocardiogram (ultrasound). If the suspicion for HCM remains high after these tests, further workup likely would include an exercise echocardiogram, cardiac MRI and, in some cases, genetic testing.
“While genetic testing is not yet indicated in all patients with documented HCM, experimental evidence from my lab and others suggests that both the clinical course and outcome of the disease is, in part, dependent on the type of protein that has been affected by the genetic mutation. Thus, in the future it is likely that we will be able to tailor individual treatments to specific subsets of mutations and provide more personalized care,” says Dr. Tardiff.
Dr. Tardiff, in collaboration with pediatric cardiology and structural/interventional cardiology at UA Sarver Heart Center, provides comprehensive evaluation and care to individual patients and, when warranted, entire families.
Some experts who are studying athlete safety advocate an ECG as part of the regular school physical. “The issue of mandated pre-participation clinical screening (usually via ECG) is a controversial topic because the data regarding the efficacy of such programs remains unclear. We want to be careful not to unduly frighten people. HCM in the popular press is usually presented as a dire diagnosis. I would recommend an ECG and an echocardiogram for an athlete whose family has a history of sudden cardiac arrest, any of the symptoms outlined above or a suspected cardiomyopathy, such as HCM,” says Dr. Tardiff.
How active should a person be if they are at risk?
“Management of HCM is usually individualized. This is important because the disease severity can vary widely, even between patients with the same genetic mutations. It is also important to remember that a sedentary lifestyle is an independent risk factor for heart disease and thus may increase the negative impact of hypertrophic cardiomyopathy on patients.
No high-intensity or contact sports advised for HCM patients. These include – but are not limited to – basketball, ice hockey, soccer, racquetball and football.
No official consensus on more moderate exercise. Until recently, rigorous information was lacking regarding the risk of engaging in moderate exercise and this represents a major focus of clinical research. Importantly, a recent preliminary study from the University of Michigan demonstrated a small increase in exercise tolerance in HCM patients who engaged in consistent moderate-intensity aerobic exercise, for example, biking, modest hiking, noncompetitive swimming and golf. “This study, and others that are ongoing, will provide much needed information to allow patients to live more healthy and active lives,” says Dr. Tardiff. “In general, we advise patients to take care of themselves – control blood pressure, diabetes, and avoid obesity. Soon, we will be able to help each patient develop a safe and enjoyable exercise regimen as well.”
How is HCM treated?
“In general, if a patient does not have symptoms, we usually do not treat. With symptoms (in particular, shortness of breath, dizziness or chest pain) the first line of treatment is medications, such as beta blockers or calcium channel blockers. In some cases, especially when a specific form of enlargement of the heart reduces the ability to pump blood efficiently and when symptoms cannot be adequately controlled with medications, we will consider surgery to remove the obstructing part of the muscle. Some patients who cannot undergo surgery can be treated with alcohol septal ablation (a procedure that is performed in the catheterization laboratory),” says Dr. Tardiff.
For patients at high risk of sudden cardiac death, an implantable cardiac defibrillator (ICD) is often recommended. “The decision regarding the need for an ICD is dependent on multiple risk factors, including discovering certain abnormal heart rhythms during monitoring and the presence of syncope (fainting),” says Dr. Tardiff. Patients with ICDs can lead active lives, including exercise, she adds.
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