Familial dilated cardiomyopathy in a child: a case report

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.