IR Sant Pau has been recognised with the award for best oral presentation at the 15th National Congress of Paediatric Cardiology and Congenital Heart Disease (SECPCC), recently held in Murcia, for a study exploring the genetic basis of paediatric myocarditis. This accolade, granted at the main scientific event for paediatric cardiologists in Spain, highlights the significance and impact of this discovery in the field of cardiovascular medicine.
Myocarditis, an inflammation of the heart muscle, has traditionally been considered an acquired condition, generally caused by viral infections. However, recent research suggests that some cases of myocarditis may have an underlying genetic component. The study, led by Dr Roger Esmel, a member of the Paediatrics research group at IR Sant Pau and a paediatric cardiologist at Hospital Sant Pau, has delved into this hypothesis, focusing on paediatric patients, a group that has received limited attention in this area.
“The incidence of myocarditis is far lower than that of inflammatory conditions in other organs, such as gastroenteritis, bronchitis, or meningitis, raising the question of why some individuals develop myocarditis while others do not, even when exposed to the same infections. Our study seeks answers in genetics,” explained Dr Esmel.
The study, conducted over eight years in collaboration with multiple medical centres, analysed paediatric patients with uncomplicated myocarditis—those who did not experience severe heart failure or arrhythmias. Using state-of-the-art Next Generation Sequencing (NGS) technologies, the researchers identified pathogenic or likely pathogenic genetic variants in 23% of cases.
These findings represent a significant breakthrough, demonstrating that nearly one in four paediatric patients with myocarditis could have an underlying genetic predisposition. This discovery challenges the perception of myocarditis as purely an acquired disease and opens the door to new strategies for prevention and treatment.
Until now, many patients with uncomplicated myocarditis have been discharged quickly without thorough follow-up. However, the findings indicate that these patients may have a hidden risk of developing cardiomyopathies in the future, underscoring the importance of genetic evaluations in specific subgroups. “The aim is to identify at-risk patients from the first episode and provide them with more rigorous follow-up. This will not only improve their prognosis but also prevent severe complications in adulthood,” added Dr Esmel.
In addition to immediate clinical implications, the study also highlights the need to advance towards a personalised medicine model. Identifying clinical and radiological factors associated with genetic variants will enable the optimisation of medical resources, focusing genetic testing on patients with a higher likelihood of genetic predisposition. Despite the promising findings, Dr Esmel cautions that this is only the beginning. “Broader studies are needed to confirm our observations and establish robust recommendations that can be applied in clinical practice,” he noted.
