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Myocardial Infarction in Neonatal Mice, A Model of Cardiac Regeneration
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Myocardial infarction in a newborn heterozygous for the MTHFR C677T mutation

Amy B Clark1, Theophil A Stokes, Henry F Krous

  • 1Naval Hospital Oak Harbor, Whidbey Island, WA, USA. amy.clark2@med.navy.mil

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|February 21, 2012
PubMed

Insights

This study reports a rare case of neonatal myocardial infarction in an infant experiencing a massive heart attack during birth. A genetic variant in the MTHFR C677T mutation may have contributed to the coronary thrombosis.

Area of Science:

  • Cardiology
  • Neonatal Medicine
  • Genetics

Background:

  • Neonatal myocardial infarction (NMI) is a rare but serious condition with various known causes.
  • Previous reports cite congenital heart disease, anomalous coronary arteries, thromboembolism, coagulopathy, and birth asphyxia as potential etiologies.
  • The etiology of NMI remains unknown in a significant number of cases.

Observation:

  • A term infant presented with a massive myocardial infarction shortly after birth, necessitating intensive resuscitation and management.
  • Autopsy revealed a thrombus occluding the proximal left coronary artery.
  • The precise origin of the thrombus could not be determined.

Findings:

  • Genetic analysis identified a heterozygous MTHFR C677T mutation in the affected infant.
  • This mutation is associated with altered folate metabolism and may increase the risk of thrombotic events.
  • The MTHFR C677T variant is hypothesized as a potential predisposing factor for the observed coronary thrombosis in this neonate.

Implications:

  • This case highlights the MTHFR C677T mutation as a potential, previously under-recognized risk factor for neonatal myocardial infarction.
  • Further research is warranted to elucidate the role of genetic factors, including MTHFR variants, in the pathogenesis of NMI.
  • Understanding these genetic predispositions can aid in early identification and potentially preventative strategies for at-risk neonates.

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