A genomic analysis of 11,555 individuals has identified 60 genes related to congenital heart disease (CHD), according to a study published in ‘Proceedings of the National Academy of Sciences‘(Pnas).
Congenital heart disease is one of the most common congenital malformations, affecting 1-1.8 % of living births. Its severity can vary from asymptomatic cases to critical situations that require immediate intervention.
The study, led by researchers Martina Brueckner and Richard Lifton, Yale University of Medicine (USA) analyzed 248 genes in individuals with CHD and determined that 10.1 % of the participants carried harmful genetic variants linked to the disease. Of these cases, four specific genes (KMT2D, CHD7, PTPN11 and Notch1) represented a third of the identified mutations.
According to Sergio Flores Villar, head of CPediatric Ardiology of the Mutua Terrass University HospitalA: «Congenital heart disease is one of the most common malformations, with a broad spectrum of forms. In most cases it does not generate health problems, but in some it can cause serious situations from birth, although these cases are less frequent ».
The study also revealed that some of these mutations have effects beyond the heart. For example, variants in the MyH6 gene have a slight impact on neurological development, while mutations in CHD7 and KMT2D are associated with a greater risk of delay in development.
In statements a Science Media CenterFlores ensures that these findings reinforce the importance of genetic diagnosis in congenital heart disease, with possible applications in early detection and family planning in high prevalence cases. In addition, they suggest that genomic tests could be routinely integrated into the clinical evaluation of these disorders, facilitating a more precise and personalized medical approach.
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