Biología molecular de cardiopatías congénitas

Congenital Heart Diseases are the most frequent malformations in live new-borns. Among the most frequent complications, arrhythmias are usually the main cause of sudden death. A large part of these malformations respond to genetic bases, which is why different genes have been identifi ed by molecular biology techniques, whose mutations would be involved in their presentation. With the aim of establishing the relationship between molecular biology studies in the diagnosis and approach to Congenital Heart Diseases, a 12-year-old male patient with arrhythmia clinical picture and a family background of sudden and early death was performed, a biology study molecular by means of the complete exome sequencing technique and bioinformatics analysis by means of “In silico”technology for the study of genes associated with congenital heart diseases; the data obtained were analysed by computational study to complement the molecular study and evaluate the relationship with the clinical picture of the patient. The identifi cation of 4 pathogenic variants in 3 genes associated with heart disease was achieved; the computational analysis allowed the characterization of the identifi ed variants, and a precise phenotype – endotype – genotype correlation could be established. From the results, the usefulness of this type of studies for the analysis of genetic variants and their impact on the health of patients is highlighted, highlighting the need to establish a personalized medicine, which allows for adequate and directed transdisciplinary management, reducing the impact and morbidity and mortality