Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation-Family Case Report and Review of the Literature.

PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), that mainly presents with ventricular pre-excitation, cardiac hypertrophy and progressive conduction system degeneration. Its natural course, treatment and prognosis are significantly different from sarcomeric HCM. The clinical phenotypes of PRKAG2 syndrome often overlap with HCM due to sarcomere protein mutations, causing this condition to be frequently misdiagnosed.

The Dysfunctional Right Ventricle in Dilated Cardiomyopathies: Looking from the Right Point of View.

Dilated cardiomyopathies (DCMs) are a heterogenous group of primary myocardial diseases, representing one of the leading causes of heart failure, and the main indication for heart transplantation. While the degree of left ventricular dilation and dysfunction are two key determinants of adverse outcomes in DCM patients, right ventricular (RV) remodeling and dysfunction further negatively influence patient prognosis. Consequently, RV functional assessment and diagnosing RV involvement by using an integrative approach based on multimodality imaging is of paramount importance in the evaluation of DCM patients and provides incremental prognostic and therapeutic information.

Intracardiac mass revealing a rare form of cardiomyopathy.

We present the case of a woman with a 2-month history of exertional dyspnoea and fatigue in which echocardiography revealed a cavity-obliterating right ventricular mass. Further imaging evaluation using cardiac magnetic resonance showed a thrombotic mass as well as diffuse myocardial oedema and endomyocardial fibrosis (EMF) that involved both ventricles. In the absence of any other cause (including peripheral eosinophilia), the diagnosis of idiopathic EMF was established.