Article

Genetic testing reveals PRKAG2 syndrome mimicking sarcomeric hypertrophic cardiomyopathy in an adolescent: a case report

2026-05-08

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> <italic>PRKAG2</italic> syndrome is a rare autosomal dominant glycogen storage cardiomyopathy caused by pathogenic variants in the <italic>PRKAG2</italic> gene. It typically presents with left ventricular hypertrophy, ventricular pre-excitation, and conduction system disease, which can closely mimic sarcomeric hypertrophic cardiomyopathy (HCM) on routine i...

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Literature Corpus work: 285e429e-548d-5ce7-9c17-f887be784c0e
DOI: 10.21203/rs.3.rs-9151431/v1

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