Learn about myocardial hypertrophy, the leading cause of sudden death in athletes.

By Fernanda Bassete, from the Einstein Agency - Just over a month ago, the unexpected death of businessman and amateur triathlete João Paulo Diniz, at age 58, drew attention to the "double act" of physical exercise and heart health.

João Paulo's father, Abílio Diniz, recounts in his book "Paths and Choices – Balance for a Happier Life" that his son was diagnosed with myocardial hypertrophy, a relatively common congenital heart disease. But what exactly is this disease, and what risks does it pose for those who exercise?

"Myocardial hypertrophy is much more common than we imagine. It is a genetic alteration that is not always diagnosed in childhood or adolescence. The disease is silent, and a person can go years without symptoms, only discovering it during a check-up," explains Leandro Echenique, a sports cardiologist at Hospital Israelita Albert Einstein. It is estimated that the disease affects, on average, 1 in every 500 live births.

However, the doctor emphasizes that the fact that a person is born with the genetic alteration does not mean that they will develop the disease, which has about 1.500 mutations, with diverse characteristics.

According to Echenique, hypertrophic cardiomyopathy is characterized by thickening of the heart muscle wall and, consequently, an increase in heart size. This overloads the heart, making it more susceptible to developing serious arrhythmias and potential cardiac arrest – hence the importance of routine check-ups, especially for sports enthusiasts or those with a family history of sudden death.

Common in athletes

Sudden cardiac death occurs instantaneously, unexpectedly, and is caused by the loss of function of the heart muscle. The incidence in the general population is low (around 1%), but hypertrophic cardiomyopathy is the leading cause of sudden death among athletes under 35 years of age, precisely when they are at the peak of their careers.

It is important to highlight that physical activity is a protective factor against cardiovascular disease for most of the population. According to Echenique, it is not contraindicated for those diagnosed with cardiomyopathy, but the exercises need to be of light to moderate intensity and require rigorous medical supervision.

"Research shows that those with this cardiomyopathy have a higher risk of developing exercise-induced arrhythmias. There are studies that show the disease is associated with cases of sudden death during high-intensity exercise," warns Echenique. Therefore, competitive or professional sports are prohibited for patients with high-risk cardiomyopathy.

Signals and symptons

The disease can manifest with chest pain that worsens with exercise; palpitations/rapid heartbeat; shortness of breath after simple, routine activities (such as climbing a flight of stairs, for example); and even fainting.

The diagnosis is made through physical examination and the patient's symptoms, but is corroborated after tests such as electrocardiogram and echocardiogram. In some more complex cases, a cardiac magnetic resonance imaging (MRI) scan is also recommended.

After diagnosis, treatment is individualized using medications to reduce the occurrence of arrhythmias and strain on the heart. A minority of patients will require some interventional treatment or surgery. In the most severe cases, with a high risk of sudden death, it may be necessary to implant an ICD (implantable cardioverter-defibrillator) – a device placed under the skin that delivers a shock to the patient's heart if cardiac arrest occurs.

Subscribe to 247, Support via Pix, Subscribe to TV 247, in the channel Cuts 247 and watch: