What disease is characterized by infantile hypertrophic cardiomyopathy and exercise intolerance?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Pompe’s disease is a glycogen storage disorder caused by the deficiency of the enzyme acid alpha-glucosidase. This leads to the accumulation of glycogen in lysosomes, particularly affecting muscle tissues. One of the hallmark characteristics of this disease in infants is infantile hypertrophic cardiomyopathy, a condition in which the heart muscle becomes abnormally thick, making it harder for the heart to pump blood. Additionally, due to the involvement of skeletal muscle, infants with Pompe's disease often experience exercise intolerance, which is evident in their inability to engage in physical activity as expected for their age.

The combination of hypertrophic cardiomyopathy and exercise intolerance in early infancy makes Pompe’s disease a notable condition in this context. This contrasts with the other options, which do not typically present with hypertrophic cardiomyopathy as a primary symptom. For example, cystic fibrosis primarily affects the lungs and pancreas, leading to respiratory issues rather than cardiac involvement. Duchenne muscular dystrophy is characterized by progressive muscle weakness due to dystrophin deficiency, but does not usually present with hypertrophic cardiomyopathy in the early stages. Marfan syndrome affects connective tissues and is more associated with aortic dilatation rather than cardiomyopathy in infants. Therefore, the

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