Chapter 7 - Congenital and Acquired Heart Disease

Abstract

This chapter focuses on information obtained by molecular genetic analysis in the diagnosis, treatment, and overall understanding of pediatric cardiovascular disease (CVD) pathogenesis by examining the more prevalent congenital heart defects (CHD), dysrhythmias, and cardiomyopathies, as well as sporadic and acquired disorders. These defects are common causes of mortality and morbidity in infants and children, particularly, during the perinatal period. Cardiovascular abnormalities represent the most common class of birth defect, affecting approximately 1 in every 120 infants each year. The high incidence of cardiovascular defects in infants and children represents an enormous burden and cost borne by the families, health-care providers, and society at large. Recent advances in molecular genetics have shown that specific genetic and molecular factors are linked to CHD, allowing their identification on the human chromosome and providing a great opportunity for improving genetic diagnostics and future gene therapy. Acquired diseases in neonates and children include Kawasaki disease, acute and chronic rheumatic cardiac disease, infective endocarditis, and myocarditis. Molecular genetic technology has been applied in a limited fashion in the analysis of these diseases and could improve the clinical diagnosis. The chapter presents a survey of the pediatric cardiologist's armamentarium with regard to molecular and genetic analysis. It highlights the current use of molecular diagnostic methods, including microarray, gene mapping, proteomic, transgenic, and stem cell technologies, as well as future directions in both clinical application and research.