Arq. Bras. Cardiol. 2022; 119(6): 910-911
Focusing on the Right Ventricle in PRKAG2 Syndrome
This Short Editorial is referred by the Research article "Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses".
The PRKAG2 gene encodes the adenosine monophosphate-activated protein kinase (AMPK) gamma 2 regulatory subunit. AMPK has a central role in cellular energy homeostasis. Pathogenic variation in PRKAG2 causes an autosomal dominant syndrome comprising ventricular hypertrophy, supraventricular arrhythmias, electrocardiographic pre-excitation and conduction system abnormalities.– The genetic background of this syndromic presentation was discovered in 2001.. Histologically there is myocyte glycogen accumulation, and the typical pattern of hypertrophy is usually described as biventricular and concentric, similar to other metabolic phenocopies of hypertrophic cardiomyopathy (HCM), with systolic dysfunction as another possible “red-flag” feature. The more frequent pathogenic variants are p.Arg302Gln and p.Asn488Ile. Due to the condition’s rarity, most publications consist of small case series or case reports, with few exceptions.. None of the previous publications specifically report right ventricular imaging findings in this condition.
Expanding on their previous work, where 3D echocardiography and strain imaging findings of the left ventricle were described in a cohort of 30 patients with PRKAG2 syndrome, Pena et al. provide a short report focusing on the right ventricle (RV), using the same cohort, in the current edition of this Journal.
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