Studies congenital heart disease and the complex interplay between genetic predisposition and cardiac stress mediated by obesity, high blood pressure and myocardial infarction.
Congenital Heart Disease (CHD) accounts for a high proportion of clinically relevant birth defects, most of these associated with mutations in heritable genes. Improved surgical procedures in modern medicine have led to continual increases in survival rates. As a consequence, our society is experiencing a steady increase in the proportion of genetically predisposed individuals that can develop severe cardiac dysfunctions.
Cardiovascular diseases (CVDs) have multifactorial etiology, where phenotype complexity is attributed to a combination of genetic and environmental factors. The dramatic upsurge of sedentary life style, obesity and diabetes place CVDs as one of the major causes of morbidity and mortality in western societies.
Our group has recently uncovered a novel familial mutation in NKX2-5 associated with conduction defects and dilated cardiomyopathy and we have developed knock-in models to simulate the human condition. Collectively, our findings will contribute for the generation of novel approaches in preventive care, counseling and treatment for complex cardiovascular diseases, decreasing the socio-economic burden to our society.