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Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease

R Junker1, S Kotthoff, H Vielhaber

  • 1Institute of Clinical Chemistry and Laboratory Medicine and Institute of Atherosclerosis Research, University Hospital Münster, Albert-Schweitzer-Strasse 33, 48149, Münster, Germany. junkerr@uni-muenster.de

Cardiovascular Research
|July 27, 2001
PubMed

Insights

The MTHFR 677TT genotype is linked to structural congenital heart disease (CHD) in children. This finding suggests a potential risk marker for heart malformations during early pregnancy.

Area of Science:

  • Genetics and Developmental Biology
  • Cardiovascular Research
  • Pediatric Medicine

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) gene's C677T mutation is associated with neural tube defects and oral clefts.
  • Limited data exist on the MTHFR 677TT genotype in children with structural congenital heart disease (CHD).

Purpose of the Study:

  • To investigate the association between the MTHFR 677TT genotype and structural CHD in Caucasian children.
  • To determine if the MTHFR 677TT genotype is a risk factor for congenital heart malformations.

Main Methods:

  • Genotyping for the MTHFR 677TT mutation was performed in 114 Caucasian children with CHD and 228 age- and sex-matched healthy controls.
  • Statistical analysis included odds ratios (OR) and 95% confidence intervals (CI) to assess the association.

Main Results:

  • The MTHFR 677TT genotype was more frequent in children with CHD (18.4%) compared to controls (9.2%), with an OR of 2.2 (P=0.027).
  • Specific CHD types, including pulmonary valve stenosis and hypoplastic left heart syndrome, showed significantly higher frequencies of the TT genotype (ORs ranging from 6.1 to 20.4).

Conclusions:

  • The embryonal MTHFR 677TT genotype is significantly associated with the development of structural congenital heart malformations.
  • Further research is needed to clarify whether this genotype serves as a risk marker or a risk factor for structural CHD.
Abstract

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