Rare Diseases Symptoms Automatic Extraction

Physiologic or pathologic hypertrophy: how can we know?

[fabry disease]

Pathologic left ventricular hypertrophy due to hypertrophic cardiomyopathy is typically diagnosed based on compatible clinical and imaging findings. In a subset of patients however, the diagnosis is unclear, either due to the finding of concentric hypertrophy raising the possibility of physiologic hypertrophy due to athlete's heart or due to the potential of so-called hypertrophic cardiomyopathy 'phenocopies', which include Anderson-Fabry disease and cardiac amyloidosis. We review each of these diseases, highlighting important distinguishing features, the knowledge of which should permit the resolution of such diagnostic dilemmas.