Skip to main content
SpringerLink
Log in

Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype

  • Short Report
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

At her first day of life, a neonate presented with severe cyanosis and a mass obstructing the right ventricle outflow tract. Prostagladin E1 was necessary to provide pulmonary blood flow. The mass was removed using extracorporeal bypass surgery; the right ventricle was dilated, and the pulmonary valve leaflets were damaged. Sternal closure was delayed because of bleeding and poor cardiac performance. Histology demonstrated that the mass was a mixed thrombus. Investigation revealed homozygous 677TT genotype of the methylenetetrahydrofolate reductase. In conclusion, a life-threatening thrombotic event such as an intracardiac thrombus obstructing the right ventricle outflow tract can occur in a neonatal age. Since the event can be a result of a combination of acquired and congenital thrombogenic risk factors, an extensive screening including DNA-based mutation analysis should be performed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

Abbreviations

ECHO:

Echocardiogram

MTHFR:

Methylenetetrahydrofolate reductase

References

  1. Bowen DJ, Bowley S, John M, Collins PW (1998) Factor V Leiden (G1691A), the prothrombin 3′-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): a single genetic test genotypes all three loci–determination of frequencies in the S. Wales population of the UK. Thromb Haemost 79:949–954

    PubMed  CAS  Google Scholar 

  2. Cardo E, Monrós E, Colomé C et al (2000) Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status. J Child Neurol 15:295–298

    Article  PubMed  CAS  Google Scholar 

  3. Cattaneo M (1999) Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 81:165–176

    PubMed  CAS  Google Scholar 

  4. Dodelson de Kremer R, Grosso C (2005) Maternal mutation 677C>T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring. Clin Genet 67:69–80

    Article  PubMed  CAS  Google Scholar 

  5. Grow JL, Fliman PJ, Pipe SW (2002) Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant. J Perinatol 22:175–178

    Article  PubMed  Google Scholar 

  6. Gupta G, Sondhi V, Sondhi S et al (2007) Periventricular leucomalacia. J Neonat 21:189–195

    Google Scholar 

  7. Heller C, Schobess R, Kurnik K et al (2000) Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors–a multicentre case-control study. For the childhood thrombophilia study group. Br J Haematol 111:534–539

    Article  PubMed  CAS  Google Scholar 

  8. Hogeveen M, Blom HJ, Van Amerongen M et al (2002) Hyperhomocysteinemia as risk factor for ischemic and hemorrhagic stroke in newborn infants. J Pediatr 141:429–431

    Article  PubMed  Google Scholar 

  9. Münchow N, Kosch A, Schobess R et al (1999) Role of genetic prothrombotic risk factors in childhood caval vein thrombosis. Eur J Pediatr 158(Suppl 3):S109–S112

    Article  PubMed  Google Scholar 

  10. Nowak-Göttl U, Duering C, Kempf-Bielack B, Sträter R (2003–2004) Thromboembolic diseases in neonates and children. Pathophysiol Haemost Thromb 33:269–274

    Article  Google Scholar 

  11. Pogliani L, Muggiasca L, Arrigoni L et al (2010) Maternal methylenetetrahydrofolate reductase (MTHFR) homozygosity and neonatal outcome: follow-up of 42 pregnancies at risk. J Child Neurol 25:701–704

    Article  PubMed  Google Scholar 

  12. Prengler M, Sturt N, Krywawych et al (2001) Homozygous thermolabile variant of the methylenetetrahydrofolate reductase gene: a potential risk factor for hyperhomocysteinaemia, CVD, and stroke in childhood. Dev Med Child Neurol 43:220–225

    Article  PubMed  CAS  Google Scholar 

  13. Steegers-Theunissen RP, Van Iersel CA, Peer PG et al (2004) Hyperhomocysteinemia, pregnancy complications, and the timing of investigation. Obstet Gynecol 104:336–343

    Article  PubMed  CAS  Google Scholar 

  14. Thornburg CD, Lattimore KA, Pipe SW (2003) Tricuspid valve thrombus and pulmonary embolus in an infant with homozygous thermolabile methylenetetrahydrofolate reductase and heterozygous prothrombin G20210A variant. J Perinatol 23:513–515

    Article  PubMed  CAS  Google Scholar 

Download references

Conflict of interest and financial disclosure

There is no conflict of interest. No sponsor had an involvement in this clinical observation. No payment was given to anyone to produce the manuscript.

Author information

Authors and Affiliations

  1. Pediatric Cardiac Intensive Care Unit, National Institute of Cardiovascular Diseases, Limbova 1, 833 51, Bratislava, Slovakia

    Lubica Kovacikova, Peter Skrak & Martin Zahorec

Authors
  1. Lubica Kovacikova
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Peter Skrak
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Martin Zahorec
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Lubica Kovacikova.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kovacikova, L., Skrak, P. & Zahorec, M. Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype. Eur J Pediatr 170, 1201–1203 (2011). https://doi.org/10.1007/s00431-011-1442-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-011-1442-5

Keywords

Search

Navigation