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Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease

Frontiers in Cardiovascular Medicine

Methods We performed a retrospective analysis to examine the clinical manifestations, genetic traits, and the relationship between PD and mitochondrial function in a pediatric patient.

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A man in his 70s with weakness and syncope

Dr. Smith's ECG Blog

Formal echocardiogram showed normal EF, no wall motion abnormalities, no pericardial effusion. Pediatric and elderly patients were more predisposed to developing an arrhythmic event in the setting of fever [7]. Induced Brugada-type electrocardiogram, a sign for imminent malignant arrhythmias. No more troponins were done.

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Hyperthermia and ST Elevation

Dr. Smith's ECG Blog

A formal echocardiogram was completed the next day and again showed a normal ejection fraction without any focal wall motion abnormalities to suggest CAD. Pediatric and elderly patients were more predisposed to developing an arrhythmic event in the setting of fever [7]. Heart Rhythm, 13(7): 1515-1520. [2]: