Epidemiology of cardiovascular malformations: Prevalence and risk factors

Epidemiological approaches to the study of cardiovascular malformations (CV Ms) lace challenges of disease definition, nomenclature, changing diagnosti c methodologies, the rarity of the disease in the general population, and t he incorporation of current knowledge on genetics and morphogenesis into de signing studies to investigate risk factors and implement preventive strate gies. Previous studies, especially the population-based Baltimore-Washingto n infant Study, have documented variability in the prevalence of specific t ypes of CVM by time, place, and personal characteristics and have highlight ed the potential prevention of diabetes-associated heart malformations thro ugh timely medical management of pre-conception diabetes. Left-sided obstru ctive heart defects have been identified as targets for new studies of gene tic risk factors. Potential environmental risk factors for CVMs also have b een identified, such as organic solvents and pesticides, coincident with th e emergence of new strategies to study genetic susceptibility and gene-envi ronment interactions. increased collaborative, multicenter research on thes e and other factors, such as nutritional factors in early pregnancy, offers new hope for potentially reducing the burden of CVM in the population. Am. J. Med. Genet. (Semin. Med. Genet.) 97:319-325, 2000. (C) 2001 Wiley-Liss, Inc.