We present the cardiac findings from the autopsy of a 28-year-old male with mucopolysaccharidosis VII (MPS VII), also known as Sly Syndrome, whose diagnosis was confirmed by biochemical testing. The patient died a sudden cardiac death. Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries.
View Article and Find Full Text PDFBackground: Congenital pericardial defects occur from a defect in the formation of the pleuropericardial membrane during embryonic development. This defect may be asymptomatic but can be fatal if complicated by herniation of any portion of the heart.
Cases: We report two cases in which herniation of a portion of the heart occurred through a partial left pericardial defect and resulted in fetal death.