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Infantile dilated cardiomyopathy caused by RPL3L gene mutation: A case report

Biwei Mai1, Zhixian Lei1, Shanqing Qin1

  • 1Pediatric Intensive Care Unit, Hainan Women and Children's Medical Center, China.

The Journal of International Medical Research
|May 19, 2026
PubMed

Insights

Mutations in the ribosomal protein L3-like gene (RPL3L) can cause severe early-onset dilated cardiomyopathy. This case highlights familial RPL3L gene mutations in an infant, leading to successful treatment and recovery.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a serious heart condition.
  • Mutations in the ribosomal protein L3-like gene (RPL3L) are linked to early-onset DCM.

Purpose of the Study:

  • To report a case of DCM in an infant due to RPL3L gene mutations.
  • To investigate the genetic basis and inheritance pattern of DCM in this family.

Main Methods:

  • Clinical assessment including echocardiography, chest X-ray, and cardiac MRI.
  • Whole-exome sequencing to identify genetic mutations.
  • Monitoring of cardiac function during drug therapy.

Main Results:

  • An infant presented with severe DCM, poor appetite, breathlessness, and lethargy.
  • Whole-exome sequencing revealed two RPL3L mutations (c.501G>A and c.322G>A), inherited from both parents.
  • The patient showed improved cardiac function with drug therapy, normalizing within 6 months.

Conclusions:

  • Familial RPL3L gene mutations are associated with early-onset dilated cardiomyopathy.
  • The findings support an autosomal recessive inheritance pattern for RPL3L-associated cardiomyopathy.
  • Early diagnosis and treatment can lead to favorable outcomes in affected infants.

Keywords:
Ribosomal protein L3-like genecase reportdrug therapyinfantile dilated cardiomyopathywhole-exome sequencing

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