We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. Mini-Abstract We report the case of a rare cardiac presentation of Fabry disease. Although concentric left...
WOS: 000418480100011PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipi...
SummaryWe describe a case of a 60-year-old male with dilated phase of hypertrophic cardiomyopathy ca...
A 46-year-old male was diagnosed with hypertrophic cardiomyopathy (HCM) and severe left ventricular ...
Fabry disease is an X-linked disorder due to deficiency of the lysosomal hydrolasea-galactosidase A ...
Abstract Although Fabry disease was identified a century ago, it is still a challenging condition to...
Fabry disease (FD) is an X-linked genetic disorder of glycosphingolipid metabolism due to deficiency...
SummaryObjectivesFabry disease is caused by deficiency of α-galactosidase A, and typically causes mu...
International audienceFabry disease is an X-linked progressive multisystemic genetic sphingolipidosi...
Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactos...
PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. ...
SummaryA 54-year-old woman visited our hospital because of palpitation and dizziness. Systolic eject...
Fabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of alpha-galact...
A 47-year-old woman was referred with increasing dyspnoea and neuropathic pain. During echocardiogra...
Fabry disease is a rare tesaurismosis due to a deficit of the lysosomal enzyme activity of alpha-gal...
A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The ...
WOS: 000418480100011PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipi...
SummaryWe describe a case of a 60-year-old male with dilated phase of hypertrophic cardiomyopathy ca...
A 46-year-old male was diagnosed with hypertrophic cardiomyopathy (HCM) and severe left ventricular ...
Fabry disease is an X-linked disorder due to deficiency of the lysosomal hydrolasea-galactosidase A ...
Abstract Although Fabry disease was identified a century ago, it is still a challenging condition to...
Fabry disease (FD) is an X-linked genetic disorder of glycosphingolipid metabolism due to deficiency...
SummaryObjectivesFabry disease is caused by deficiency of α-galactosidase A, and typically causes mu...
International audienceFabry disease is an X-linked progressive multisystemic genetic sphingolipidosi...
Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactos...
PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. ...
SummaryA 54-year-old woman visited our hospital because of palpitation and dizziness. Systolic eject...
Fabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of alpha-galact...
A 47-year-old woman was referred with increasing dyspnoea and neuropathic pain. During echocardiogra...
Fabry disease is a rare tesaurismosis due to a deficit of the lysosomal enzyme activity of alpha-gal...
A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The ...
WOS: 000418480100011PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipi...
SummaryWe describe a case of a 60-year-old male with dilated phase of hypertrophic cardiomyopathy ca...
A 46-year-old male was diagnosed with hypertrophic cardiomyopathy (HCM) and severe left ventricular ...