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 […]

The typical findings of myocardium deformation indices (MDI) in many cardiac diseases, the low cost of the echocardiographic exam, the large availability, the vast implementation of this tool for clinical practice and the prognostic value has allowed the detection of earlier myocardium dysfunction than the traditional measurement of left ventricular (LV) ejection fraction. Moreover, there are typical MDI patterns in different forms of hypertrophy: decreased values in septum MDI in hypertrophic cardiomyopathy (HCM) or where hypertrophy is more accentuated, or […]