Key result
PRKAG2 syndrome is predominantly characterized by cardiac chamber hypertrophy, particularly left ventricular hypertrophy, as well as abnormal ejection fraction, altered strain patterns, and heart valve abnormalities.
Why the study?
What are the echocardiographic features presented by patients with PRKAG2 syndrome?
What are the echocardiographic features presented by patients with PRKAG2 syndrome?
This integrative review highlights that PRKAG2 syndrome is predominantly characterized by left ventricular hypertrophy on echocardiography, alongside other variable findings such as reduced ejection fraction, atrial enlargement, and valve dysfunction.
PRKAG2 syndrome is a rare, early-onset, autosomal dominant, inherited lysosomal glycogen storage disease that develops with ventricular preexcitation syndrome, supraventricular arrhythmias, and cardiac hypertrophy.The disease is caused by mutations in the gene encoding the adenosine monophosphate-activated protein kinase (AMPK)
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Pena et al. (2023) conducted a review in PRKAG2 syndrome. PRKAG2 syndrome was evaluated on Echocardiographic characteristics. PRKAG2 syndrome is predominantly characterized by cardiac chamber hypertrophy, particularly left ventricular hypertrophy, as well as abnormal ejection fraction, altered strain patterns, and heart valve abnormalities.
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