Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1.

Assessments of right ventricular volume and function using three-dimensional echocardiography in older children and adults with congenital heart disease: comparison with cardiac magnetic resonance imaging.

Background: The utility of three-dimensional echocardiography (3DE) for right ventricular (RV) assessment is uncertain in older children and adults with congenital heart disease (CHD), in whom the right ventricle is often dilated and dysfunction is common.

Methods: RV assessments using 3DE were compared with manual tracing and automated border detection (ABD) with magnetic resonance imaging (MRI) as the reference method. Twenty-eight of 54 consecutive patients (52%; median age, 17 years) with CHD had adequate three-dimensional echocardiographic data sets for analysis.