Arq. Bras. Cardiol. 2024; 121(8): e20240543
PRKAG2 Syndrome: Is Screening with Early Echocardiography Effective in Children with a Positive Genotype?
Maria Elisa Lucena Sales de Melo Assunção
, Norma Lucena Cavalcanti Licínio da Silva, Mychelle Pascoaline de Miranda Silva
This Short Editorial is referred by the Research article "Echocardiographic Findings in Children of Patients Diagnosed with PRKAG2 Syndrome".
Described for the first time in 2001 by Gollob et al., the syndrome determined by the mutation of the PRKAG2 gene is rare, autosomal dominant, with high penetrance and unknown prevalence in the population. It manifests with the phenotype of myocardial hypertrophy and associated ventricular pre-excitation. Tachyarrhythmias are common in this genetic syndrome, as are disturbances in the cardiac conduction system that lead, in some cases, to pacemaker implantation at an early age.
The PRKAG2 gene mutation usually presents as a phenocopy of hypertrophic cardiomyopathy, differing from this in that there are no sarcomeric changes and, rather, accumulation of glycogen in cardiac myocytes. The definitive diagnosis is given by genetic study, but the presentation with left ventricular (LV) hypertrophy and conduction system disorders also form a differential diagnosis with Danon and Anderson-Fabry diseases.
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Keywords: Cardiac Arrhythmias; Cardiac Arrythmias; Cardiomegaly; Cardiomyopathies; Child; Genetics
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