PMC5884240_01
(a) Electrocardiogram: atrial fibrillation and left and right ventricular hypertrophy. (b) Two-dimensional transthoracic echocardiography (apical view): left and right ventricular hypertrophy. (c) Coronary angiography: normal findings of epicardial coronary artery.
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fig1
Family screening test for sister and two sons were negative (Figures 1(a)-1(c)).
PMC5884240_02
(a) Electrocardiogram: left ventricular hypertrophy and ventricular extrasystoles. (b) Two-dimensional transthoracic echocardiography (parasternal long-axis view): left ventricular hypertrophy and degenerative aortic valve changes. (c) Coronary angiography: significant right coronary artery stenosis and implanted cardiac electorstimulator.
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fig2
Afterwards, testing for Fabry disease was performed: alpha-galactosidase level was decreased (0.06 nmol/spot/21 h; normal range >0.12 nmol/spot/21 h), lyso-GL-3 was increased (36.1 ng/mL; normal range 0.0-3.5 ng/mL), and a hemizygous mutation was detected (c.[902G>T]) (Figures 2(a)-2(c)).
PMC5884240_03
(a) Electrocardiogram: normal ECG. (b) Two-dimensional transthoracic echocardiography (short-axis view): normal mitral valve and partial thickened left ventricular walls.
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fig3
Laboratory analysis showed normal renal function: creatinine level 76 micromol/L, endogenous creatinine clearance 81 mL/min/1.73 m2, albuminuria 5.1 mg/L, and proteinuria 78 mg/24 h (Figures 3(a) and 3(b)).
PMC5884240_04
(a) Electrocardiogram: atrial fibrillation and left bundle branch block. (b) Two-dimensional echocardiography (parasternal long-axis view): hyperechogenic and hypertrophic interventricular septum; after mitral valve repair.
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fig4
Testing for Fabry disease was performed: alpha-galactosidase level was normal (1.7 micromol/L/h; normal range >1.2 micromol/L/h), lyso-GL-3 was increased (7.5 ng/mL; normal range 0.0-3.5 ng/mL), and a heterozygous mutation was detected (c.[902G>T]) (Figures 4(a) and 4(b)).