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Staphylococcal endocarditis as the first manifestation of heritable protein S deficiency in childhood

Takayuki Hoshina1, Yasutaka Nakashima1, Daisuke Sato1

  • 1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy
|January 28, 2014
PubMed

Insights

A rare case of infective endocarditis in a child was linked to heritable thrombophilia, specifically Protein S deficiency. This finding suggests a potential risk factor for childhood infective endocarditis in those without prior heart conditions.

Area of Science:

  • Pediatric Cardiology
  • Hematology
  • Genetics

Background:

  • Infective endocarditis (IE) is uncommon in children without pre-existing heart conditions.
  • Heritable thrombophilias are genetic disorders predisposing to blood clots.

Observation:

  • A previously healthy 12-year-old girl presented with IE and central nervous system disease.
  • She exhibited altered consciousness, abnormal behaviors, and signs of septic emboli.
  • Imaging revealed a cardiac vegetation and multiple thromboembolisms.

Findings:

  • Staphylococcus aureus was identified in blood cultures.
  • Low plasma Protein S activity (12%) and a family history of thrombosis were noted.
  • Genetic analysis revealed a heterozygous PROS1 mutation (p.R474C), confirming Protein S deficiency.

Implications:

  • This is the first reported case of childhood IE as the initial manifestation of heritable thrombophilia.
  • Protein S deficiency may be a risk factor for developing or worsening IE in children.
  • Early diagnosis and management of thrombophilia are crucial in pediatric IE cases.

Keywords:
Infective endocarditisProtein S deficiencyStaphylococcus aureusThromboembolismVegetation

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