Key result
Endomyocardial biopsy confirms Fabry cardiomyopathy in a woman with LVNC without hypertrophy.
Why the study?
There are few data regarding the association between Fabry disease and left ventricular noncompaction, especially in heterozygous females without LV hypertrophy.
Design
Case report with histopathological examination
Authors
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Case report of novel GLA mutation in female with LVH and stroke; leaves open genotype-phenotype correlations in Fabry cardiomyopathy.
Case Report (n=1)
This case highlights that Fabry disease should be considered in the differential diagnosis of left ventricular noncompaction, and endomyocardial biopsy can clarify atypical presentations even in heterozygous women.
Martins et al. (2014) conducted a case report in Fabry disease and left ventricular noncompaction (n=1). Endomyocardial biopsy was evaluated on Histopathological evidence of Fabry cardiomyopathy. Endomyocardial biopsy confirmed Fabry cardiomyopathy through marked deposition of glycosphingolipids in a 30-year-old woman with left ventricular noncompaction without hypertrophy.
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