title: Methylenetetrahydrofolate Reductase C677T: Hypoplastic Left Heart and Thrombosis.
abstract: The incidence of congenital heart defects is higher in infants with mutation of methylenetetrahydrofolate reductase (MTHFR) gene. The MTHFR C677T gene decreases the bioavailability of folate and increases plasma homocysteine, a risk factor for thrombosis. There have been no reported cases in the literature on the clinical implications of this procoagulable state in the setting of cyanotic heart disease, which itself has prothrombotic predisposition. Two patients with hypoplastic left heart syndrome developed postoperative thrombotic complications, both were homozygous for MTHFR C677T. We present these cases and highlight the implications of MTHFR mutation in the management of complex congenital heart disease.
authors.affiliation: Grand Rapids Medical Education Partners and College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.
authors.forename: Kimberly J
authors.initials: KJ
authors.lastname: Spronk
authors.affiliation: Pediatric Critical Care Medicine, Helen DeVos Children's Hospital of Spectrum Health, Grand Rapids, MI, USA.
authors.forename: Anthony D
authors.initials: AD
authors.lastname: Olivero
authors.affiliation: Congenital Heart Center, Helen DeVos Children's Hospital of Spectrum Health, Grand Rapids, MI, USA.
authors.forename: Marcus P
authors.initials: MP
authors.lastname: Haw
authors.affiliation: Congenital Heart Center, Helen DeVos Children's Hospital of Spectrum Health, Grand Rapids, MI, USA joseph.vettukattil@helendevoschildrens.org.
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Vettukattil
mesh_terms: D006348:Cardiac Surgical Procedures; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011183:Postoperative Complications / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D020246:Venous Thrombosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics
chemical_list: D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: hypoplastic left heart syndrome; methylenetetrahydrofolate reductase; thrombophilia