Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio
Abstract Amyloid light chain (AL) cardiomyopathy is the most malignant specific cardiomyopathy. According to international recommendations, it should be ruled out non‐invasively using the serum free light chain (FLC) ratio and immunofixation electrophoresis in both serum and urine. Here, we report o...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-08-01
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| Series: | ESC Heart Failure |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ehf2.13381 |
| _version_ | 1819155508959903744 |
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| author | David Zach Klemens Ablasser Ewald Kolesnik Viktoria Hoeller Friedrich Fruhwald Florian Prüller Clemens Reiter Christine Beham‐Schmid Rainer Lipp Peter P. Rainer Andreas Zirlik Albert Wölfler Nicolas Verheyen |
| author_facet | David Zach Klemens Ablasser Ewald Kolesnik Viktoria Hoeller Friedrich Fruhwald Florian Prüller Clemens Reiter Christine Beham‐Schmid Rainer Lipp Peter P. Rainer Andreas Zirlik Albert Wölfler Nicolas Verheyen |
| author_sort | David Zach |
| collection | DOAJ |
| description | Abstract Amyloid light chain (AL) cardiomyopathy is the most malignant specific cardiomyopathy. According to international recommendations, it should be ruled out non‐invasively using the serum free light chain (FLC) ratio and immunofixation electrophoresis in both serum and urine. Here, we report on a 69‐year‐old female patient with new‐onset heart failure with mid‐range ejection fraction. Cardiac imaging was highly suggestive of cardiac amyloidosis. Amyloid scintigraphy showed faint myocardial tracer uptake according to Perugini Score 1, but immunofixation was negative and the FLC ratio was normal, despite a slight increase in lambda FLCs. Endomyocardial biopsy revealed advanced myocardial lambda immunoglobulin light chain deposition. Clinically relevant extracardiac amyloid organ infiltration could not be detected. Conclusively, non‐invasive testing can in rare cases fail to exclude isolated AL amyloid cardiomyopathy. We suggest that even slight increases in serum lambda or kappa FLCs should be considered abnormal in suspected cardiac amyloidosis if non‐invasive testing delivers discrepant results. |
| first_indexed | 2024-12-22T15:38:06Z |
| format | Article |
| id | doaj.art-9e1d8438218b4f629a25a241ec26c276 |
| institution | Directory Open Access Journal |
| issn | 2055-5822 |
| language | English |
| last_indexed | 2024-12-22T15:38:06Z |
| publishDate | 2021-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | ESC Heart Failure |
| spelling | doaj.art-9e1d8438218b4f629a25a241ec26c2762022-12-21T18:21:12ZengWileyESC Heart Failure2055-58222021-08-01843397340210.1002/ehf2.13381Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratioDavid Zach0Klemens Ablasser1Ewald Kolesnik2Viktoria Hoeller3Friedrich Fruhwald4Florian Prüller5Clemens Reiter6Christine Beham‐Schmid7Rainer Lipp8Peter P. Rainer9Andreas Zirlik10Albert Wölfler11Nicolas Verheyen12Division of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaClinical Institute of Medical and Chemical Laboratory Diagnostics Medical University of Graz Graz AustriaDivision of General Radiology, Department of Radiology Medical University of Graz Graz AustriaInstitute of Pathology Medical University of Graz Graz AustriaDivision of Oncology, Department of Internal Medicine Medical University of Graz Graz AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaDivision of Hematology, Department of Internal Medicine Medical University of Graz Graz AustriaDivision of Cardiology, Department of Internal Medicine Medical University of Graz Auenbruggerplatz 15 Graz A‐8036 AustriaAbstract Amyloid light chain (AL) cardiomyopathy is the most malignant specific cardiomyopathy. According to international recommendations, it should be ruled out non‐invasively using the serum free light chain (FLC) ratio and immunofixation electrophoresis in both serum and urine. Here, we report on a 69‐year‐old female patient with new‐onset heart failure with mid‐range ejection fraction. Cardiac imaging was highly suggestive of cardiac amyloidosis. Amyloid scintigraphy showed faint myocardial tracer uptake according to Perugini Score 1, but immunofixation was negative and the FLC ratio was normal, despite a slight increase in lambda FLCs. Endomyocardial biopsy revealed advanced myocardial lambda immunoglobulin light chain deposition. Clinically relevant extracardiac amyloid organ infiltration could not be detected. Conclusively, non‐invasive testing can in rare cases fail to exclude isolated AL amyloid cardiomyopathy. We suggest that even slight increases in serum lambda or kappa FLCs should be considered abnormal in suspected cardiac amyloidosis if non‐invasive testing delivers discrepant results.https://doi.org/10.1002/ehf2.13381Cardiac amyloidosisMonoclonal gammopathyEndomyocardial biopsyLight chain amyloidosisFree light chain |
| spellingShingle | David Zach Klemens Ablasser Ewald Kolesnik Viktoria Hoeller Friedrich Fruhwald Florian Prüller Clemens Reiter Christine Beham‐Schmid Rainer Lipp Peter P. Rainer Andreas Zirlik Albert Wölfler Nicolas Verheyen Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio ESC Heart Failure Cardiac amyloidosis Monoclonal gammopathy Endomyocardial biopsy Light chain amyloidosis Free light chain |
| title | Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio |
| title_full | Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio |
| title_fullStr | Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio |
| title_full_unstemmed | Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio |
| title_short | Advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio |
| title_sort | advanced isolated light chain amyloid cardiomyopathy with negative immunofixation and normal free light chain ratio |
| topic | Cardiac amyloidosis Monoclonal gammopathy Endomyocardial biopsy Light chain amyloidosis Free light chain |
| url | https://doi.org/10.1002/ehf2.13381 |
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