Pediatric Cardiology in the Genomic Era

Abstract

While congenital heart disease, cardiomyopathy, arrhythmias and acquired cardiac diseases are common causes of mortality and morbidity in infants and children, the basic underlying mechanisms of many specific pediatric cardiovascular diseases still remains undetermined. Breakthroughs in molecular genetic technology have just begun to be applied in pediatric cardiology stemming from the use of chromosomal mapping and the identification of genes involved in both the primary etiology and as significant risk factors in the development of cardiac and vascular abnormalities. This review will focus on information obtained thus far by molecular genetic analysis in the diagnosis, treatment and overall understanding of pediatric cardiovascular disease pathogenesis examining both the more prevalent congenital/inherited heart defects, arrhythmias and cardiomyopathies, as well as sporadic and acquired disorders. In addition, a survey of the pediatric cardiologist's armamentarium with regards to molecular and genetic analysis is presented highlighting 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.