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Korean Circ J. 2009 Aug;39(8):335-339. English. Case Report. https://doi.org/10.4070/kcj.2009.39.8.335
Nah JC , Kim WS , Cho WH , Choi SK , Yoo HW , Takenaka T , Tei C .
Division of Cardiology, Department of Internal Medicine, Seoul Paik Hospital, Inje University Medical College, Seoul, Korea.
Department of Internal Medicine, School of Medicine, Kyung Hee University, Seoul, Korea. kkabee@dreamwiz.com
Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
Division of Cardiac Repair and Regeneration, Graduate School of Medical and Dental Sciences, agoshima University, Kagoshima, Japan.
Department of Cardiovascular, Respiratory and Metabolic Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
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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