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Published on: August 8, 2022
A case of fabry cardiomyopathy
Jong Chun Nah1, Woo-Shik Kim, Wook-Hyun Cho
1Division of Cardiology, Department of Internal Medicine, Seoul Paik Hospital, Inje University Medical College, Seoul, Korea.
Korean Circulation Journal
|December 2, 2009
Summary
Fabry disease, a genetic disorder, can cause unexplained left ventricular hypertrophy (LVH) in men. Early diagnosis through enzyme activity and genetic testing is crucial for managing this condition.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Hypertrophic cardiomyopathy is a common cause of left ventricular hypertrophy (LVH).
- Fabry disease, an X-linked metabolic disorder, is an underdiagnosed cause of LVH in males.
- Fabry disease results from alpha-galactosidase A (alpha-Gal A) deficiency, leading to glycophospholipid accumulation.
Purpose of the Study:
- To investigate the potential of Fabry disease as a cause of unexplained LVH in a male patient.
- To highlight the diagnostic process for Fabry disease in a patient with cardiac and renal complications.
Main Methods:
- Echocardiography to assess left ventricular wall thickness and diastolic function.
- Measurement of plasma alpha-galactosidase A (alpha-Gal A) activity.
- Genetic analysis to detect mutations in the alpha-Gal A gene.
Main Results:
- The patient presented with significant left ventricular hypertrophy (LVH) and diastolic dysfunction.
- Low plasma alpha-Gal A activity was detected.
- A known H46R missense mutation in the alpha-Gal A gene confirmed the diagnosis of Fabry disease.
Conclusions:
- Fabry disease should be considered in the differential diagnosis of unexplained LVH, particularly in males.
- Integrated diagnostic approaches combining cardiac imaging, enzyme assays, and genetic testing are essential for diagnosing Fabry disease.
- This case underscores the importance of recognizing Fabry disease in patients with a history of renal failure and cardiac abnormalities.
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