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Familial dilated cardiomyopathy in a child: a case report

Ali Ismail1, Dima Khreis1, Amani Assaad1

  • 1Department of Pediatric and Adolescent Medicine, American University of Beirut Medical Center, PO Box: 11-0236. Riad El Solh, Beirut, Beirut, 1107 2020, Lebanon.

BMC Pediatrics
|April 2, 2024
PubMed

Insights

Dilated cardiomyopathy in children, often linked to genetic mutations like Myosin Light Chain 3, presents a high risk of heart failure and mortality. Current treatments focus on prognostic improvement due to a lack of curative therapies.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Cardiovascular Medicine

Background:

  • Dilated cardiomyopathy (DCM) is a leading cause of heart failure (HF) and cardiac transplantation in children.
  • Diagnosis involves EKG, chest X-ray, and echocardiography, but treatment guidelines for pediatric idiopathic/familial DCM are limited.
  • Current pediatric DCM management focuses on improving prognosis rather than offering a cure.

Observation:

  • A 2-year-old girl presented with symptoms of cardiogenic shock, including edema, weakness, lethargy, and vomiting.
  • Diagnostic imaging revealed cardiomegaly on chest X-ray and a first-degree atrioventricular block on EKG.
  • Echocardiography demonstrated severe biventricular systolic and diastolic dysfunction.

Findings:

  • The patient had dilated cardiomyopathy associated with a homozygous mutation in the Myosin Light Chain 3 gene.
  • Despite intensive care, the child experienced cardiac arrest after 70 days of hospitalization.
  • The case highlights the severe clinical course and poor prognosis of certain pediatric DCM cases.

Implications:

  • Pediatric DCM, though rare, is associated with significant morbidity and mortality.
  • This case underscores the critical need for further research into effective therapies for pediatric DCM.
  • Genetic mutations, such as in the Myosin Light Chain 3 gene, can lead to severe pediatric heart conditions.
Abstract

Keywords:
Cardiogenic shockDilated cardiomyopathyEchocardiogramGeneticsPediatrics

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