“Double-hit” precipitates fulminant cardiac dysfunction in a child with homozygous CAP2 variant: a case report - Takeaways - MDSpire

“Double-hit” precipitates fulminant cardiac dysfunction in a child with homozygous CAP2 variant: a case report

  • By

  • Zhenhui Pan

  • Jiaojiao Wan

  • Kaiyu Zhou

  • Min Tan

  • Yifei Li

  • June 9, 2026

  • 0 min

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  • 1

    A 5-year-old boy with a homozygous CAP2 mutation presented with fulminant cardiac dysfunction triggered by a respiratory viral infection.

  • 2

    Exome sequencing identified a novel CAP2 variant (c.551G > A; p.W184*), leading to complete loss of CAP2 function.

  • 3

    The case illustrates the link between cytoskeletal dysfunction and cardiac electromechanical failure in pediatric DCM.

  • 4

    Intensive therapies were effective in reversing ventricular remodeling and improving the patient's clinical status.

  • 5

    Early genetic screening is recommended for children with unexplained cardiac issues, especially with a family history of consanguinity.

Original Source(s)

“Double-hit” precipitates fulminant cardiac dysfunction in a child with homozygous CAP2 variant: a case report

  • by Zhenhui Pan, Jiaojiao Wan, Kaiyu Zhou, Min Tan, Yifei Li

  • June 9, 2026

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