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Cardiovascular manifestations in Fabry's disease
Author(s) -
Sakuraba Hitoshi,
Yanagawa Yukishige,
Igarashi Takashi,
Suzuki Yoshiyuki,
Suzuki Tadashi,
Watanabe Koji,
Ieki Keiko,
Shimoda Kosuke,
Yamanaka Tatsuhiro
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb01255.x
Subject(s) - fabry disease , medicine , mitral valve prolapse , asymptomatic , fabry's disease , cardiomyopathy , cardiology , renovascular hypertension , heterozygote advantage , disease , etiology , mitral valve , heart failure , kidney , genotype , biochemistry , chemistry , gene
Cardiovascular manifestations of Fabry's disease were studied clinically in 10 hemizygous males and 13 heterozygous females. Mitral valve prolapse was found in 5 of 9 hemizygotes and in 5 of 13 heterozygotes examined by echocardiography. Ordinary medical examinations revealed cardiomyopathy in some asymptomatic females, and the diagnosis of the Fabry heterozygote was established by demonstration of specific inclusion bodies in the biopsied myocardium and low a‐galactosidase activity in leukocytes. Renovascular hypertension of juvenile onset and thromboembolism were also found in 7 patients. It was concluded that Fabry's disease should always be considered in cases of mitral valve prolapse, cardiomyopathy, renovascular hypertension and thrombosis of unknown etiology, and that the Fabry patients should be followed carefully for the early detection of cardiovascular involvements in this disease.