Why the study?
Patients with PRKAG2 syndrome, a glycogen storage disease and HCM phenocopy, are often misdiagnosed as having HCM.
Clinicians must be aware of PRKAG2 syndrome as a phenocopy of hypertrophic cardiomyopathy to avoid misdiagnosis.
Red flags for PRKAG2 syndrome may aid LVH differentiation from HCM; leaves open prospective validation of diagnostic criteria.
Hypertrophic cardiomyopathy (HCM) is a disorder characterized by ventricular hypertrophy and myocyte disarray that increases the risk of arrhythmic sudden cardiac death. HCM phenocopies are disease entities sharing a left ventricular hypertrophy phenotype but arising from a different pathologic mechanism. Patients with PRKAG2 syndrome (PS), a glycogen storage disease, are often misdiagnosed as having HCM. Clinicians must be familiar with red flags alerting to the possibility of this important disorder.
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Juan et al. (2023) studied this question.
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