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Prinzmetal angina in a child with actin gene ACTC1 mutation

Donald Mattia1, Chelsea Matney1, Steven Zangwill1

  • 1Phoenix Children's Center for Heart Care, Phoenix, AZ, USA.

Cardiology in the Young
|July 25, 2023
PubMed

Insights

Prinzmetal angina in children is rare. A 2-year-old experienced chest pain due to an ACTC1 gene mutation, leading to heart failure and transplant listing.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Cardiovascular Medicine

Background:

  • Prinzmetal angina is an uncommon cause of chest pain in children.
  • Early diagnosis and management are crucial for improving outcomes.

Observation:

  • A 2-year-old female presented with recurrent chest pain, malaise, diaphoresis, fatigue, and poor perfusion.
  • Episodes correlated with low cardiac output, lactic acidosis, and low mixed venous oxygen saturations.

Findings:

  • Genetic analysis revealed an ACTC1 gene mutation.
  • The mutation was associated with left ventricular non-compaction and reduced systolic function.
  • Nitroglycerin effectively resolved chest pain episodes.

Implications:

  • This case highlights ACTC1 mutations as a cause of pediatric Prinzmetal angina and heart failure.
  • Early identification and targeted therapy, like nitroglycerin, are vital.
  • Cardiac transplant may be considered for severe cases with high sudden death risk.

Keywords:
ACTC1 gene mutationPrinzmetal anginaleft ventricular non-compaction

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