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Case report: long‐term outcome post‐heart transplantation in a woman with Fabry's disease
Author(s) -
Verocai Flavia,
Clarke Joe Thomas,
Iwanochko Robert M.
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9194-3
Subject(s) - medicine , heart transplantation , fabry disease , transplantation , human genetics , metabolic disease , disease , term (time) , heart disease , pediatrics , surgery , intensive care medicine , genetics , physics , quantum mechanics , biology , gene
Fabry's disease is an X‐linked recessive disorder that results from the deficiency of alpha‐galactosidase A and causes the accumulation of globotriaosylceramide (Gb3) in different tissues. It leads to a rare form of cardiomyopathy which may be complicated by end‐stage heart failure and need to heart transplant. Our group described the first case of heart transplant in a woman with cardiomyopathy secondary to Fabry's disease about 12 years ago. There was uncertainty in regards to the possibility of recurrence of the disease as previously documented in kidney transplant recipients and long‐term outcomes. In this report, 14 years after transplant, this woman is still alive and there is no evidence of Fabry's disease in any of the endomyocardial biopsies. Heart transplantation can be recommended for Fabry's patients with end‐stage cardiomyopathy.