title: A case of fabry cardiomyopathy.
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.
authors: Division of Cardiology, Department of Internal Medicine, Seoul Paik Hospital, Inje University Medical College, Seoul, Korea.
authors: Jong Chun
authors: JC
authors: Nah
authors: Woo-Shik
authors: WS
authors: Kim
authors: Wook-Hyun
authors: WH
authors: Cho
authors: Suk-Koo
authors: SK
authors: Choi
authors: Han-Wook
authors: HW
authors: Yoo
authors: Toshihiro
authors: T
authors: Takenaka
authors: Chuwa
authors: C
authors: Tei