Arq. Bras. Cardiol. 2022; 118(1): 106-109
Long-Term Cardiac Complications of PRKAG2 Syndrome
Luiz Pereira de Magalhães
, Eduardo Faria Soares de Magalhães
, Jussara de Oliveira Pinheiro, Alex Teixeira Guabiru, Francisco José Farias Borges dos Reis, Roque Aras
Introduction
The PRKAG2 syndrome is a rare autosomal dominant inherited disease caused by mutations in the gene encoding the γ regulatory subunit of AMP-activated protein kinase., It has been associated with abnormal glycogen accumulation in cardiomyocytes, predisposing to ventricular hypertrophy, arrhythmias, and sudden death. Gollob et al. were the first to describe the mutation in 2001, calling attention to the need for differential diagnosis with hypertrophic cardiomyopathy., Although the prevalence of PRKAG2 syndrome is not established, the number of reported cases may be increasing due to wider availability of genotyping. Despite that, possible prognostic factors have not yet been described in the literature. Given the possible severity of clinical presentations and the scarcity of data regarding the natural history, our objectives were to evaluate the clinical course of patients with PRKAG2 syndrome over time and analyze the incidence of long-term cardiac complications.
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