Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.

[fabry disease]

Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene , which encodes the enzyme Î±-galactosidase A . A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids , which may cause left ventricular hypertrophy that is typically concentric and symmetric . We present the case of a 60 -year -old woman with symptoms of dyspnea , atypical chest pain and palpitations , in whom a transthoracic echocardiogram revealed an apical variant of hypertrophic cardiomyopathy . Analysis of specific sarcomeric genetic mutations was negative . The patient underwent a screening protocol for Anderson-Fabry disease , using a dried blood spot test , which was standard at our institution for patients with left ventricular hypertrophy . The enzymatic activity assay revealed reduced Î±-galactosidase A enzymatic activity . Molecular analysis identified a missense point mutation in the GLA gene (p .R 118 C ). This case report shows that Anderson-Fabry disease may cause an apical form of left ventricular hypertrophy . The diagnosis was only achieved because of systematic screening , which highlights the importance of screening for Anderson-Fabry disease in patients with unexplained left ventricular hypertrophy , including those presenting with more unusual patterns , such as apical variants of left ventricular hypertrophy . This case also supports the idea that the missense mutation R 118 C is indeed a true pathogenic mutation of Anderson-Fabry disease .

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Diseases presenting "blood spot test" symptom

fabry disease

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