Rapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.
Natsumi Uemura, Mitsuhiro Fujino, Shinji Higuchi et al.
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Case in brief
A male infant had myocardial hypertrophy on neonatal echocardiography without skeletal muscle weakness. By 3 months, he had feeding difficulty, severe cardiomegaly (left ventricular mass index [LVMI] 419.5 g/m²; Z-score 12.3) and respiratory distress. Reduced GAA enzyme activity and a pathogenic GAA mutation confirmed infantile-onset Pompe disease. Avalglucosidase alfa enzyme replacement therapy was started, and cardiac hypertrophy and heart failure symptoms began improving within 1 week. LVMI normalized by 16 weeks and remained within the normal range during 36 months of follow-up; no treatment-related adverse events were reported.
What made this case unusual
The infant had severe cardiac involvement without skeletal muscle weakness, an atypical presentation of infantile-onset Pompe disease. Myocardial hypertrophy regressed rapidly after avalglucosidase alfa was initiated.
Diagnostic / clinical pearl
In an infant with progressive myocardial hypertrophy, Pompe disease may be present even without skeletal muscle weakness; reduced GAA activity and genetic testing established the diagnosis in this case.