Gross cardiac involvement in glycogen storage disease type 3.

Abstract

This report describes a patient with type III glycogenosis diagnosed during life but who died suddenly at home and was found at necropsy to have gross cardiac involvement. The immediate cause of death was not apparent but could possibly have been related to the very unusual degree of cardiac involvement.

Glycogen Storage Disease Type III diagnosis and management guidelines

“…Ventricular hypertrophy is a frequent finding, but overt cardiac dysfunction is rare. [22][23][24][25] Sudden death thought to be caused by cardiac arrhythmias has been reported. 23,26,27 There may be motor delays in childhood, weakness and wasting may slowly progress and become severe by the 3rd or 4th decade of life.…”

Cardiac Pathology in Glycogen Storage Disease Type III

“…The prevalence of symptomatic cardiac involvement is not yet known but case reports and case series suggest that the symptoms can be indicative of lifethreatening cardiac events in some patients (Miller et al 1972;Akazawa et al 1997;Ingle et al 2004;Vertilus et al 2010). Furthermore, a patient's disease may progress to the extent that he/she may require cardiac transplantation as was seen in one of the reported patients (Cochrane et al 2007).…”

“…Life-threatening cardiac arrhythmias have been reported in rare instances (Miller et al 1972;Moses et al 1989;Tada et al 1995). There are also a few cases in which cardiac symptoms progressed and culminated in sudden death (Miller et al 1972) or required cardiac transplantation (Cochrane et al 2007).…”

Correction of glycogen storage disease type III with rapamycin in a canine model

“…Muscle weakness present during childhood often becomes more prominent in adults [1,7,8]. Ventricular hypertrophy is a frequent finding in GSD IIIa, and sudden death caused by cardiac arrhythmias or cardiac failure has been reported [9][10][11][12]. Current treatment is symptomatic, and there is no effective therapy for the disease [1].…”