The development of the reprogramming technology led to generation of induced Pluripotent
Stem Cells (iPSC) from a variety of somatic cells. Ever since, fast growing knowledge of …

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left
ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare …

Background—The incidence of sudden cardiac death (SCD) and the management of this
risk in patients with asymptomatic preexcitation remain controversial. The purpose of this …

Materials and Methods A search of the English literature was performed using PubMed up to
September 2014 on the clinical features, genetics, and pathophysiology of PS syndrome …

Background Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine
monophosphate kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial …

Aims Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5′-AMP-activated
protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a …

Background Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique
defect of the cardiac cell metabolism and has a distinctive histopathology with excess …

Aims Describe the findings obtained using standard echocardiography (Echo) and
deformation indices (2D and 3D speckle tracking strain) in patients (Pts) with PRKAG2 …

Inborn errors of metabolism (IEM) are responsible for around 5% of all cases of
cardiomyopathy (CM) and for 15% of non‐idiopathic cases. Storage disorders such as …

PRKAG2 cardiomyopathy is a rare genetic disorder that manifests early in life with an
autosomal dominant inheritance pattern. It harbors left ventricular hypertrophy (LVH) …