Best Cases: Non-Ischemic Heart Disease-The natural history of a misdiagnosed heart disease

The natural history of a misdiagnosed heart disease

Video Transcription

Video Summary

A 43-year-old man with hypertension and chest pain was initially diagnosed with hypertrophic cardiomyopathy after CMR showed severe concentric LV hypertrophy and fibrosis, despite normal coronary arteries. Nine years later, he returned with severe heart failure and markedly reduced ejection fraction. Repeat CMR showed biventricular dilation and ischemic-appearing scar, but coronary angiography remained normal. Reassessment of his history revealed childhood painful extremities, skin rashes, and proteinuria, raising suspicion for Fabry disease. Low leukocyte alpha-galactosidase, renal biopsy, and genetic testing confirmed the diagnosis. The case highlights diagnostic anchoring and the importance of T1 mapping in suspected rare cardiomyopathies.

Keywords

Fabry disease

hypertrophic cardiomyopathy

cardiac MRI

alpha-galactosidase deficiency

T1 mapping