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| http://dx.doi.org/10.1016/j.jcmg.2022.12.016 | DOI Listing |
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First Reported Case of Dual Hereditary Gelsolin and Transthyretin Wild-Type Cardiac Amyloidosis in a Man in his late 40s.
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Amyloidosis is a group of disorders characterized by abnormal deposition of amyloid proteins in various tissues and organs, leading to progressive organ dysfunction. With over 40 precursor proteins linked to amyloid formation, identification of the amyloid type is critical to guide treatment. A man in his late 40s presenting with heart failure was diagnosed with cardiac amyloidosis based on an endomyocardial biopsy.
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Cardiac amyloidosis is a fatal disorder caused by deposition of abnormally folded protein in the interstitial space. One of the proteins most associated with the disease is transthyretin (TTR), which leads to a progressive infiltrative cardiomyopathy (CM). Previously thought to be a rare disorder, there is growing recognition of it as a common cause of heart failure in the elderly and African Americans.
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Immunoglobulin light chain (AL) and wild-type transthyretin (ATTRwt) amyloidosis, while sharing similar clinical presentations, require distinct treatments. We report a rare case of a 75-year-old man with heart failure diagnosed with concurrent AL and ATTRwt cardiac amyloidosis. Immunohistochemistry and liquid chromatography-tandem mass spectrometry confirmed both AL and ATTR amyloid deposits in the heart.
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