A Case of Fabry Cardiomyopathy

다국어 초록 (Multilingual 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 α-
galactosidase A (α-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 α-Gal A activity. A previously reported H46R missense mutation was detected in his α-Gal
A gene and the patient was subsequently diagnosed with Fabry disease.

다국어 초록 (Multilingual 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 α-
galactosidase A (α-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 α-Gal A activity. A previously reported H46R missense mutation was detected in his α-Gal
A gene and the patient was subsequently diagnosed with Fabry disease.

참고문헌 (Reference)

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