Sažetak sa skupa

https://doi.org/10.15836/ccar2019.64

The heart in Fabry’s disease

Lea Skorup ; Thalassotherapia Crikvenica, Crikvenica, Croatia
Ivana Grgić Romić ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Jelena Šimić ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Božidar Vujičić ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Sanjin Rački ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Alen Ružić ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Luka Zaputović ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Ante Matana ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia
Teodora Zaninović Jurjević ; University of Rijeka, Faculty of Medicine, University Hospital Centre Rijeka, Rijeka, Croatia

Sažetak

Introduction: Fabry disease is rare X-linked, recessive lysosomal storage disorder expressed as deficiency in enzyme α-galactosidase A that leads to progressive accumulation of globotriaosylceramide and related glycosphingolipids in various tissues. In cardiac tissues, progressive globotriaosylceramide accumulation leads to irreversible cardiac damage.1,2 Males are primarily affected by Fabry disease, but female heterozygotes may also have symptoms.3
Case report: Our patient is 47-years-old who has been suffering from chronic kidney disease since he was 23 years old. Only twelve years later he developed end-stage renal disease and has been undergoing
regular haemodialysis in Dialysis Centre Prijedor (Bosnia and Herzegovina). He started his journey towards kidney transplantation in 2014 in University Hospital Centre Rijeka, which was performed
in May 2018. In 2014, during pretransplantation workup, echocardiography was performed revealing concentric cardiac hypertrophy without left ventricle outflow tract obstruction (Figure 1 and Figure 2) associated with contractility and diastolic filling impairment. Following suspicion on Fabry disease, diagnosis was made by measuring α-galactosidase enzyme activity in leukocytes and molecular genetic testing of GLA gene mutation. Enzyme replacement therapy was started with intravenous infusion of recombinant α-galactosidase A (agalsidase beta).
Conclusion: Renal disease and echocardiographic features of hypertrophic cardiomyopathy combined with electrocardiographic and clinical criteria should be considered as “red flags” for Fabry disease.

Ključne riječi

Fabry disease; myocardium; alpha-galactosidase

Hrčak ID:

220587

URI

https://hrcak.srce.hr/220587

Datum izdavanja:

31.5.2019.

Posjeta: 977 *