fabry disease ( fd ) is an x - linked lysosomal storage disorder caused by -galactosidase a ( -gal a ) deficiency . because the disease is x - linked , males are predominantly affected . this enzyme deficiency leads to widespread deposition of neutral glycosphingolipids ( mainly globotriaosylceramide and , to a lesser extent , galabiosylceramide ) on blood vessel walls throughout the body , resulting in a multiple - system disorder with a wide spectrum of physical signs and symptoms that predominantly affect the central and peripheral nervous systems , skin , heart , kidneys , and eyes.1 ) in the heart , glycosphingolipids deposition causes progressive left ventricular hypertrophy ( lvh ) that mimics the morphological and clinical characteristics of hypertrophic cardiomyopathy ( hcm).2)3 ) enzyme replacement therapy is effective in reversing the microvascular changes in fd by catabolizing the lipid deposits and improving cardiac function in patients with cardiac involvement.4)5 ) we report a case of fd with end - stage renal disease ( esrd ) which was suspected based upon two - dimensional transthoracic echocardiographic finding . a 44-year - old man was admitted to evaluation of aggravated exertional dyspnea with orthopnea for two weeks in 2010 . he had been diagnosed with esrd of unknown etiology at age 41 followed by renal transplantation in 2007 . percutaneous biopsy of the transplanted kidney was performed three times in 2008 , 2009 , 2010 . the findings on renal biopsy were acute rejection , chronic renal calcineurin inhibitor toxicity , antibody mediated rejection and no evidence of fd in the graft kidney . he had been treated with oral immunosuppressive agents , including prednisolone ( 10 mg daily ) , tacrolimus ( 4 mg , bid ) and mizoribine ( 50 mg , qd ) . vital signs on arrival included a blood pressure of 162/98 mmhg and a regular pulse rate of 73 bpm , and body temperature of 36.5. the initial electrocardiogram showed lvh with a strain pattern , st - t changes in leads ii , iii , avf , v3-v6 and short pr interval ( fig . 1 ) . chest radiography demonstrated cardiomegaly ( cardiothoracic ratio = 70% ) and blunting of both costophrenic angle ( fig . 2 ) . laboratory studies revealed that hemoglobin was 6.2 g / dl , bun 64.2 mg / dl , creatinine 6 mg / dl , sodium 134 meq / l , potassium 6.1 meq / l , and serum n - terminal pro - b type natriuretic peptide level 126043 pg / ml . on hospital day two , two - dimensional transthoracic echocardiography revealed concentric lvh ( interventricular septal dimension 23 mm , lv posterior wall dimension 22.8 mm ) , mimicking non - obstructive hcm ( fig . the interventricular septal dimension and posterior wall dimension was thicker than 3 years ago ( interventricular septal dimension 17 mm , lv posterior wall dimension 17 mm ) . and left atrial enlargement was seen ( 4.5 cm ) . left ventricular systolic function was preserved ( ejection fraction = 59% ) , but diastolic dysfunction was present . pulsed - wave doppler recording of mitral inflow revealed a phase resembling an abnormal relaxation diastolic filling pattern , with an ratio between early ( e ) and late ( a ) mitral inflow velocity ( e / a ) of 0.82 ( fig . the mitral annulus early diastolic tissue doppler velocity ( e ' ) and the e / e ' index were 2.64 cm / s and 26.4 , respectively , indicating increased lv filling pressure and a pseudonormal pattern ( fig . the patient was prescribed diuretics for dyspnea and epokine for anemia . and the patient 's condition improved . the patient 's history of early onset esrd and echocardiographic findings were suggestive of fabry cardiomyopathy as well as idiopathic hcm . the patient was confirmed fd by demonstration of a low plasma -gal a activity of 3.8 nmoles / hr / mg ( normal mean , 7.5 - 12.5 nmol / hr / mg ) . sequent analysis of genomic dna showed c.639 + 5 g > a [ ivs4 ( + 5)g > a ] mutation in the -gal a gene leading to a low plasma -gal a activity . family screening was done , and his brother was also confirmed fd by -gal a enzyme activity test and renal biopsy . enzyme replacement therapy with recombinant -gal a was started on an out - patient basis . fd is a progressive x - linked disorder of glycosphingolipid metabolism caused by a deficiency of the -galactosidase lysosomal enzyme.1 ) overall , the prevalence of fd has been estimated to be 1 in 40000 to 117000 male individuals.6 - 8 ) however , several recent studies suggested that the prevalence may be higher in the hemodialysis population , in which values up to 1.2% have been reported.6)9 - 13 ) the progressive accumulation of neutral glycosphingolipids in many tissues throughout the body , particularly the vascular endothelium , heart , and kidney.1 ) the manifestation of fd varies and may include angiokeratoma , corneal opacity , acroparesthesia , cerebrovascular disease , ischemic heart disease , and chronic kidney disease . most men and some women with fd exhibit deterioration of renal function , and many eventually develop esrd.14)15 ) typically the diagnosis of fd is made in male adolescents , but it may be missed or delayed . the " variant " phenotypes usually have a low level of residual -galactosidase activity resulting in a lack of the classic phenotype . the heart can be the only organ involved in male patients with specific gene mutations and in female carriers provided by low enzymatic activity , the so called " cardiac fabry variant " . the cardiac variant of fd has primarily cardiac manifestations , including lvh , valvular involvement , arrhythmia , and diastolic dysfunction , but no other classical symptoms of fd.16)17 ) because effective enzyme replacement therapy is now available for fd , it is important to diagnosis the disease earlier , when it is potentially treatable.4)5 ) we present a case of fd with cardiac involvement and early onset esrd of unknown etiology . in our patient , recently , both enzyme activity enhancement and enzyme - replacement therapy have been revealed effective in reducing glycosphingolipid accumulation and in clearing existing deposits with improvement and even regression of the cardiomyopathy.9 ) patients with esrd can be protected from cardiovascular and cerebrovascular complications by treatment with enzyme replacement therapy.16 - 19 ) therefore , early diagnosis of fabry cardiomyopathy has become important to allow prompt institution of the treatment and prevent cardiac complications as lvh with diastolic heart failure , in addition to cardiac arrhythmias , ischemic heart disease , and systemic thromboembolic events . because the prevalence may be higher in the hemodialysis population than other patients without esrd in several studies , screening test for fd is needed for early diagnosis and treatment in the patient with esrd who has lvh and/or diastolic dysfunction in transthoracic echocardiography .
fabry disease is a progressive x - linked disorder of glycosphingolipid metabolism caused by a deficiency of the -galactosidase lysosomal enzyme . 
 the partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body . in the heart , 
 glycosphingolipids deposition causes progressive left ventricular hypertrophy ( lvh ) . 
 we report a case of fabry disease which was suspected based upon two - dimensional echocardiographic finding of lvh . 
 a 44-year - old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration . 
 he had been diagnosed with end - stage renal disease of unknown etiology at age 41 followed by renal transplantation that year . 
 he had been treated with oral immunosuppressive agents . on hospital day two , transthoracic echocardiography revealed concentric lvh . left ventricular systolic function was preserved but diastolic dysfunction was present . 
 fabry disease was confirmed by demonstration of a low plasma -galactosidase a ( -gal a ) activity . 
 analysis of genomic dna showed -gal a gene mutation . 
 the patient was diagnosed with fabry disease .