Prevalence of MTHFR mutations in children with conotruncal defects and their mothers

Doctor's Name: 
Cynthia Morris, PhD
Oregon Health and Science University

This is a clinical study to ascertain if MTHFR mutation is associated with conotruncal defects. Folate deficiency, and resultant increase in homocysteine levels, has been associated with birth defects in the past, for example, with neural tube defects. The incidence of MTHFR mutation in the general population is 10-15%. A cardiac registry is already in place in Oregon from which to draw patients for the study. The investigator also has been previously funded by the NIH to study folate intake during pregnancy. This is also a population the investigator can utilize for part of the study. There is no overlap of funding with the NIH grant on pregnancy and folate. Since conotruncal abnormalities comprise approximately 10% of all congenital heart defects, and a greater percentage of the more serious defects, this is a very important study for the CHF to fund. In addition, Dr. Morris is helping a young investigator who is collaborating on this study progress to a combined MD/MPH degree with this study.

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