Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects

Piotr Surmiak1, Małgorzata Baumert1, Magdalena Paprotny1

  • 1Department of Neonatology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.

Insights

Elevated homocysteine levels in newborns with congenital heart defects (CHD) were observed. Mothers of infants with CHD showed folate metabolism disturbances, suggesting impacts on homocysteine pathways.

Area of Science:

  • Biochemistry
  • Neonatology
  • Genetics

Background:

  • The etiology of conotruncal heart defects (CHD) is largely unknown.
  • Previous research suggests a link between homocysteine, folate levels, and congenital heart disease.
  • Investigating homocysteine metabolism biomarkers may elucidate CHD causes.

Purpose of the Study:

  • To investigate biomarkers of the homocysteine metabolism pathway in mothers and neonates with CHD.
  • To compare these biomarkers between CHD cases, non-CHD controls, and healthy controls.

Main Methods:

  • Study included 43 mother-neonate pairs with CHD and 40 with non-CHD.
  • A control group of 59 mother-neonate pairs with healthy neonates was enrolled.
  • Plasma total homocysteine (tHcy), serum folates, and cobalamin levels were measured in maternal and umbilical cord blood.

Main Results:

  • Newborns with CHD exhibited higher tHcy levels than their mothers and neonates without CHD.
  • Neonates with CHD had significantly lower cobalamin levels compared to other neonates.
  • Mothers of infants with CHD showed lower folate and cobalamin levels than their own children.

Conclusions:

  • Elevated homocysteine levels were identified in neonates with CHD.
  • Folate metabolism disturbances were noted in mothers of infants with CHD.
  • Observed differences in homocysteine and cobalamin suggest multifactorial influences on homocysteine pathways in CHD.
Abstract

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