Learning deep architectures for the interpretation of first-trimester fetal echocardiography (LIFE) - a study protocol for developing an automated intelligent decision support system for early fetal echocardiography.

Background: Congenital Heart Disease represents the most frequent fetal malformation. The lack of prenatal identification of congenital heart defects can have adverse consequences for the neonate, while a correct prenatal diagnosis of specific cardiac anomalies improves neonatal care neurologic and surgery outcomes. Sonographers perform prenatal diagnosis manually during the first or second-trimester scan, but the reported detection rates are low.

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.

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.