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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.
Insights
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.
Abstract:
In the absence of hypertension, hypertrophic cardiomyopathy is the most common cause of left ventricular hypertrophy (LVH). However, it has been reported that up to 3% of males with unexplained LVH have Fabry disease, an X-linked disorder of glycophospholipid metabolism that is due to a deficiency in the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). A 44-year-old man was admitted to our hospital with palpitations. He had a history of chronic renal failure diagnosed at age 33 followed by kidney transplantation performed at our institution 2 years later, as well as long-standing hypohidrosis. His medications included prednisolone (5 mg daily), mycophenolate mofetil (1,000 mg, bid), and cyclosporine (150 mg, bid). On hospital day two, an echocardiogram demonstrated increased left ventricular wall thickness (septal wall thickness of 28 mm, posterior wall thickness of 20 mm). Diastolic dysfunction was noted on transmitral flow patterns and tissue Doppler imaging. The patient was found to have low plasma alpha-Gal A activity. A previously reported H46R missense mutation was detected in his alpha-Gal A gene and the patient was subsequently diagnosed with Fabry disease.
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