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Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
Published on: October 28, 2020
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Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy
Maria Fuller1,2, Rebecca Perry3,4,5, Madiha Saiedi3,4
1Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia.
Molecular Genetics and Metabolism Reports
|December 18, 2020
Summary
Screening adults with unexplained left ventricular hypertrophy (LVH) for Fabry disease (FD) identified cases of this under-diagnosed metabolic disorder. Measuring alpha-galactosidase A (AGA) activity in dried blood spots is an effective screening method for adult FD.
Area of Science:
- Biochemistry
- Genetics
- Cardiology
Background:
- Fabry disease (FD) is an X-linked inherited metabolic disorder caused by alpha-galactosidase A (AGA) deficiency, leading to glycosphingolipid accumulation.
- FD often presents late in adulthood with under-diagnosed left ventricular hypertrophy (LVH), despite available treatments.
Purpose of the Study:
- To investigate if screening adults with mild-to-moderate unexplained LVH for FD could identify undiagnosed cases.
- To evaluate the utility of dried blood spot AGA activity measurement as a screening tool for FD in this population.
Main Methods:
- A cohort of 511 individuals (aged 18-75) with LVH (1.2-1.5 cm) underwent screening via dried blood spot AGA activity testing.
- Positive screening results were followed by molecular genetic testing to confirm FD-causing variants.
Main Results:
- Two males were identified with low AGA activity, confirmed by molecular testing to have known FD genetic variants (p.Ala143Thr and p.Asn215Ser).
- Plasma lyso-Gb1 levels were normal in both confirmed cases.
- One female showed slightly low AGA activity but was lost to follow-up.
Conclusions:
- Screening for FD in patients with mild-to-moderate LVH of unknown origin is a viable strategy for identifying undiagnosed cases.
- Dried blood spot AGA activity testing is a practical method for screening FD in adult populations presenting with unexplained LVH.
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