Research aims to relate cardiac malformations to immunodeficiencies

A study developed by one of Pelé Pequeno Príncipe Research Institute’s teams is evaluating babies between the ages of zero and three months who are currently hospitalized to surgically correct congenital heart defects in Pequeno Príncipe Hospital’s Cardiac Intensive Care Unit. “The goal is to assess cases of immunodeficiencies that can be associated with these malformations,” explains Dr. Carolina Prando, researcher and doctor in charge of the study.

According to her: “The specific diagnosis of chromosome alterations in cardiac congenital heart defects allows a broader approach to the babies’ health situation, especially when assessing the quality of immune response, that can have a significant impact in the measure taken in infection control in cardiac postoperative period.”

In other words, if it is known that the malformation is caused by a chromosome alteration and it is discovered which alteration is responsible for the problem, doctors are able to create a plan to project the child against infections after surgery. This way, the reduction of patient’s complications and chances of infections are expected, saving even more lives.

By developing the research projects, patients who use the Brazilian Public Healthcare System (SUS) will have access to tests that weren't available for free before. Patients who are hospitalized and have healthcare don’t always have permission to receive the tests. These tests will be conducted in Pequeno Príncipe Hospital’s Genomic Laboratory, made possible by the funds raised by Pequeno Príncipe Gala.

Another significant benefit is that the test results will be evaluated by a team of immunologists that are involved in the research, alongside cardiologists in charge of the care. The integration of assistance, education and research – the trio that forms the circle of knowledge that is the core of Pequeno Príncipe Complex – expands the possibility of treatment and the chances of finding a cure.

Incidence

The main chromosomopathy related to cardiac malformation is the 22q11 deletion syndrome that affects, on average, 1 in every 4,000 babies born alive. In 75% of cases of this syndrome, babies have congenital heart defects and 77% of these cases have important alterations in their immune system.

Pequeno Príncipe’s Cardiac Surgery Service is known for its treatment in cardiac birth defects. Just in 2018, 62 surgeries were performed in babies up to 30 days old and 214 on children aged between 31 days and one-year-old, which makes it one of the biggest services in Brazil.