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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Bone scintigraphy imaging of cardiac amyloidosis
Issa Menge Kuria1, Samuel Nguku Gitau1, Khalid Bashir Makhdomi1
1Department of Imaging and Diagnostic Radiology, Aga Khan University Hospital, Nairobi, Kenya.
Abstract:
Transthyretin-related cardiac amyloidosis (ATTR) amyloidosis is an aggressive, rapidly progressive, and fatal disease, for which several promising therapies are in development. This condition is frequently underdiagnosed because of the limited specificity of echocardiography and the traditional requirement for histological diagnosis. It is well known that 99mtechnetium-labeled bone scan radiotracers can localize in the myocardial amyloid deposits, but the use of this imaging modality to differentiate between the two subtypes has only lately been revisited. We report a case of a 76-year-old man with a clinical diagnosis of amyloidosis who underwent a bone scan that had features of ATTR amyloidosis. To the best of our knowledge, this is the first case report in Sub-Saharan Africa.
Insights
Transthyretin-related cardiac amyloidosis (ATTR amyloidosis) is often underdiagnosed. Bone scans show promise in identifying ATTR amyloidosis, as demonstrated in this first Sub-Saharan African case report.
Area of Science:
- Cardiology
- Nuclear Medicine
- Radiology
Background:
- Transthyretin-related cardiac amyloidosis (ATTR amyloidosis) is a severe, progressive cardiac disease with limited diagnostic specificity.
- Echocardiography and histological analysis are traditional diagnostic methods, often leading to underdiagnosis.
- Nuclear imaging with 99mtechnetium-labeled bone tracers can detect myocardial amyloid deposits.
Observation:
- A 76-year-old man presented with clinical features suggestive of amyloidosis.
- A bone scan was performed, revealing characteristic features of ATTR amyloidosis.
- This represents the first reported case of ATTR amyloidosis diagnosed via bone scan in Sub-Saharan Africa.
Findings:
- Bone scan imaging demonstrated successful localization of amyloid deposits in the myocardium.
- The imaging findings were consistent with transthyretin-related cardiac amyloidosis.
- This case highlights the potential utility of bone scintigraphy in diagnosing ATTR amyloidosis.
Implications:
- Bone scan imaging may offer a non-invasive method for diagnosing ATTR amyloidosis, potentially improving early detection rates.
- This diagnostic approach could be particularly valuable in regions with limited access to advanced cardiac imaging or invasive procedures.
- Further research is warranted to validate the role of bone scan tracers in differentiating cardiac amyloidosis subtypes and their clinical impact.
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