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Left ventricular non-compaction revealed by aortic regurgitation due to Kawasaki disease in a boy with LDB3 mutation

Akira Hachiya1, Noriko Motoki1, Yohei Akazawa1

  • 1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|August 25, 2016
PubMed

Insights

This study reports a rare case of heart failure and left ventricular non-compaction (LVNC) in a child with Kawasaki disease (KD). A genetic mutation in LIM domain binding protein 3 (LDB3) was identified as a potential cause.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Systemic Vasculitis

Background:

  • Kawasaki disease (KD) is an acute febrile illness in children, marked by systemic vasculitis, particularly affecting coronary arteries.
  • Aortic valve regurgitation (AVR) is a known complication of KD.
  • The co-occurrence of heart failure and left ventricular non-compaction (LVNC) following acute KD has not been previously documented.

Observation:

  • A 6-month-old boy diagnosed with KD presented with moderate AVR despite treatment for coronary artery dilation.
  • The patient subsequently developed heart failure.
  • Cardiac examination revealed a rough, dense left ventricular (LV) myocardium, indicative of LVNC.

Findings:

  • Genetic analysis identified a heterogenous 163G > A substitution in the LIM domain binding protein 3 (LDB3) gene.
  • This mutation results in a valine to isoleucine change.
  • The identified LDB3 mutation is a novel finding in the context of KD complications.

Implications:

  • This case suggests that LDB3 mutations may predispose individuals to cardiac complications.
  • Combined cardiac stress from AVR and KD may trigger heart failure manifesting as LVNC in genetically susceptible individuals.
  • Further research is warranted to elucidate the role of LDB3 in KD-associated cardiac dysfunction and LVNC.

Keywords:
Kawasaki diseaseLIM domain binding protein 3aortic valve regurgitationcypher/Z-band alternatively spliced PDZ-motif proteinleft ventricular non-compaction

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