Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy—a 15-year diagnostic delay - Takeaways - MDSpire

Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy—a 15-year diagnostic delay

  • By

  • Tielang Liang

  • Hongyuan Xu

  • Chuang Huang

  • June 18, 2026

  • 0 min

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  • 1

    Fabry disease is a rare X-linked lysosomal storage disorder that can present as coronary artery disease and hypertrophic cardiomyopathy.

  • 2

    A 60-year-old male patient experienced a 15-year delay in diagnosis, initially misdiagnosed with coronary artery disease.

  • 3

    Cardiac imaging revealed significant findings, leading to the diagnosis of Fabry disease confirmed by genetic testing.

  • 4

    The patient was not started on enzyme replacement therapy, managing instead with heart failure and coronary artery disease regimens.

  • 5

    This case underscores the importance of recognizing Fabry disease in patients with unexplained left ventricular hypertrophy.

Original Source(s)

Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy—a 15-year diagnostic delay

  • by Tielang Liang, Hongyuan Xu, Chuang Huang

  • June 18, 2026

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