A boy of just 10 years had a sudden illness while playing with friends in the city of Cubatão, on the coast of São Paulo. Taken to the hospital already unconscious, doctors could not identify the cause at that time and, despite their efforts, he ended up dying hours later.
Only after the autopsy did the family learn what had happened: Nicollas suffered from asymmetrical hypertrophic cardiomyopathy. The disease is rare and has a low incidence in children. To give you an idea, the annual average in Brazil is only 0.3 to 0.5 cases per 100,000 children born.
This type of heart disease is considered by experts as “silent”. In other words, the symptoms that indicate its existence are very discreet and difficult to detect. Arrhythmia, shortness of breath and chest pain can be some of these signs.
After the seventh-day mass, held today in Cubatão, the boy’s mother, Bruna Rosane Silva, 35, told the UOL that Nicollas was always healthy. His prenatal exams were always within the normal range and the pediatric follow-up while he was growing up attested to his vitality.
“He was always very strong, he never showed signs that he had anything serious. He never complained about his heart racing, nor about lack of air. We only found out what he had when the coroner delivered the report”.
On September 7, at around 7 pm, Nicollas was at home enjoying a game on the video game he had won for his birthday, weeks before the event. His friends then called him to go to the house of one of them, where they were gathered, to play together.
“He was very happy, especially happy that day. He commented to me. Happy for the birthday present, for the friends who kept asking him to play, for the little dog we had and that adored him. He was very dear to everyone, mine ‘Bibiu,'” he said, referring to the nickname he affectionately called him.
At approximately 11 pm, Bruna suggested to her 16-year-old daughter, Sarah, that they go pick up Nicollas at her friend’s house. At that moment, she says that the phone rang. They were the boy’s friends, scared, saying that he was not feeling well and that he was vomiting a lot.
In the company of their maternal grandmother, 62-year-old Aparecida Célia, Bruna and Sarah ran to the house where the child was playing and found her unconscious. Taken to the hospital, Nicollas partially regained consciousness and reacted with his hands while the doctors and his mother asked questions.
“I asked him if he had eaten something and he gestured that he didn’t. I asked if he could breathe properly and he made the sign of ‘more or less.’ Until they asked me to leave the room. I was informed that he had to be intubated. There were hours of panic. Then came the news. He struggled, but he couldn’t stand it. I lost my ground. It was the worst moment of my life.”
disease affects blood pumping
Cardiologist Nicolle Queiroz, coordinator of the residency program at the University of Santo Amaro (Unisa), explained to UOL that asymmetric hypertrophic cardiomyopathy is genetic and that both the father and the mother can have the anomaly. Because the disease is associated with genetic factors, there is no prevention, but if any case is found in the patient’s family, he or she should seek medical assistance.
“The main manifestation in children is precisely arrhythmia, which is already followed by sudden death”, explains Nicolle. “We don’t have time to treat. The diagnosis would have to be premature, which is very difficult, as it is not common to carry out cardiac checkup exams in children. Even more so because it is a rare disease”.
When it is asymmetric, as in the case of Nicollas, hypertrophic cardiomyopathy causes an obstruction in the blood outlet of the heart’s left ventricle. The main chamber that pumps blood from the heart throughout the body. Thus, the patient may experience dizziness, palpitations, chest pain and fainting, and the risk of sudden death is high.
Anyone diagnosed with this heart disease should inform their blood relatives of the risk of also having the disease. If discovered early enough, it can be treated with medication. In severe cases it may be necessary to implant a pacemaker or perform a myectomy, that is, cardiac surgery to remove excess muscle from the heart.
“I never knew of any of my relatives having had this disease or having died of the heart”, guarantees Bruna. “Now I understand that Bibiu came into the world to serve as a warning. A warning for mothers to be alert to any sign that comes from their children. So that they love them as if they were the only ones in the world. They are our greatest treasure.”