HCM patients have traditionally been advised to be cautious when physical activities are concerned because of the risk of sudden cardiac arrest (SCA). This is why physical inactivity is common in these patients, leading to increased risk from other cardiovascular problems. So how cautious should HCM patients be and where is the golden line between prudence and staying in best possible shape?

The point of view of cardiologists on this topic has been changing in the last decade due to the availability of new data. An article from 2018 in JACC summarized some of these findings in this illustration. Activity with any intensity had beneficial concequences for HCM patients without an increase in SCA risk. Actually, the article states that neither of the aforementioned exercise trials resulted in any serious adverse events such as death, aborted sudden cardiac death, appropriate implantable cardioverter-defibrillator (ICD) shocks, or sustained ventricular tachycardia.

What about high intensity activities (like weightlifting, running, basketball, etc.)? The opinion seems to be changing on that too, and even participation in competitive sports is not out of the question. The aforementioned article states “There is promising preliminary evidence that HIE or sports participation is safe in this population. Four year follow-up results of the completed observational ICD Sports Safety Registry Prospective Multinational Registry indicate that patients with electrophysiological abnormalities due to diagnosed cardiac disease including HCMcan consider participating in vigorous competitive sports without a risk of physical injury or failure to terminate arrhythmia. In this study of 440 patients including those with ahistory of ventricular fibrillation or ventricular tachycardia during sports (30%), there were no deaths or external resuscitations during or after sports participation. Ten percent of subjects received appropriate shocks during competition or practice, at a rate of 3 per

100 person-years, and the likelihood of receiving a shock during competition was similar to receiving a shock during other physical activity for those with

HCM. In addition, aforementioned evidence in athletes with HCM suggests that HIE is not only safe in this population, but also results in favorable adaptation in cardiac structure and function, akin to what is seen among healthy, non-HCM athletes. High-quality evidence from multiple prospective randomized controlled trials regarding the efficacy and safety of HIE compared with MIE in patients with HCM is lacking.”

It is important to state that, if you are an HCM patient, it is important to develop an individualised activity plan with your caretaker. Staying as active as possible and maintaing an optimal weight are extremely important factors for your well-being.

Family support and planning

HCM can have an extremely high burden of the family of the patients. As HCM patients often do not have obvious symptoms it is sometimes tough for other people – even family members – to understand what the patients are going through. This leads to tensions and even to breakup of relationships.
This is why it is important to maintain an open and honest communication about the challenges presented by HCM and to understand what it really means to live with the disease. Psychological support on an individual and family level is also necessary for that purpose.
HCM also has its impact on family planning as many (if not most) HCM patients are afraid of transferring the gene to their children. Women with HCM are also afraid of the impact pregnancy can have on their health. It is important to note that this is a well-studied area and that pregnancy with HCM can be very safe, if the proper procedures are followed. Also, there are in vitro methods which allow for the implant of a pre-tested HCM-free embryo.

Mental health

Living with a progressive genetic disease takes a very heavy toll on mental health. The burden is especially heavy at the following key events:

• HCM diagnosis (or misdiagnosis). Discovering that you have a disease that can cause sudden cardiac arrest or bring a myryad of complications, leading eventually to a decreased life span, is an extremely stressful event. Often the diagnosis comes after years of failed attempts to get a proper diagnosis.
• Bad news from medical tests.
• Learning that you have transferred the disease gene to your children. This normally happens after genetic tests. Genetic councelling before the tests helps and is necessary but the feeling of guilt may still remain.
• Worsening symptoms. You can be able to climb a mountain one day and incapable of climbing the stairs to the second floor the other.

These events can cause one or more of the following feelings and conditions:

• Fear (of dying, of medical procedures, of physical activities, etc.)
• Depression
• Anger
• Panic attacks
• Diminished self-esteem
• Guilt (e.g. for transmitting the disease, for causing trouble to the family, or being unable to suport it financially)
• Hatred (especially towards their own hearts)
• Isolation
• Sexual dysfunction
• Etc.

These need to be treated properly by qualified specialists. Often HCM patients are prescribed relevant medications that help them cope better with their psychological problems.