PRKAG2 Syndrome – ABC CARDIOL

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Focusing on the Right Ventricle in PRKAG2 Syndrome

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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Non-Progressive Hepatic Form of Andersen Disease as a Mimic of Hypertrophic Cardiomyopathy

Fabio Mastrocola et al. William Santos de Oliveira Adalberto Atsushi Porto Roberto Moreno Mendonça Nestor Rodrigues de Oliveira Neto

An 18-year-old male patient presented to our ambulatory services due to a 3-month course of progressive dyspnea and non-productive cough. Symptoms were present even at rest, and he exhibited severe limitation at physical activity. He had a diagnosis of glycogen storage disease (GSD) type IV attained by liver biopsy since three years of age, when he developed hepatomegaly and mild hepatic dysfunction. At the time, histopathological examination showed grade 2 fibrosis along with numerous intracytoplasmic PAS-positive deposits that were resistant to diastase. Thenceforth, his liver function remained stable, and he persisted otherwise asymptomatic. His physical examination was unremarkable, and routine laboratory evaluation was within the normal ranges. However, his basal ECG () showed signs of left ventricular hypertrophy. He was submitted to a cardiovascular magnetic resonance (CMR), which showed asymmetrical hypertrophy with predominance in the interventricular septum (). Late gadolinium enhancement (LGE) was present in a patchy, multifocal pattern (). Medical therapy for heart failure was initiated; the patient is now asymptomatic and maintains regular follow-up in our ambulatory.

Patients with classic GSD type IV have unrelenting liver disease with fast progression to cirrhosis during childhood; however, a small subset of affected individuals may present with milder hepatic dysfunction that does not advance to end-stage liver disease.^, Accordingly, our patient had the diagnosis of GSD type IV by three years of age, but did not develop cirrhosis afterwards.

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Focusing on the Right Ventricle in PRKAG2 Syndrome

Non-Progressive Hepatic Form of Andersen Disease as a Mimic of Hypertrophic Cardiomyopathy

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Electronic Document Format (ISO)