Technologist Track Session 04: Nonischemic Cardiomyopathy (2018)-Glycogen storage disorders and dystrophies

Glycogen storage disorders and dystrophies

Video Transcription

Video Summary

The speaker reviewed glycogen storage diseases and their cardiac imaging features on CMR. These inherited enzyme deficiencies cause glycogen accumulation, mainly in the heart, liver, and muscles. Common CMR findings include hypertrophic or dilated cardiomyopathy, low T1 values early in disease, abnormal late gadolinium enhancement later, and reduced ventricular function. He highlighted key disorders with cardiac involvement: Pompe disease, Danon disease, PRKAG2 deficiency, and Fabry disease. CMR helps assess wall thickness, function, and fibrosis, and may guide diagnosis and treatment monitoring, especially in Pompe disease where enzyme replacement can reverse hypertrophy.

Keywords

glycogen storage diseases

cardiac MRI

hypertrophic cardiomyopathy

Pompe disease

Fabry disease