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Unusual presentation of rare Phe33Leu mutation hereditary TTR cardiac amyloidosis.

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Introduction: Hereditary TTR cardiac amyloidosis (ATTRv-CM) is a progressive and rare autosomal dominant disease, causing the formation of insoluble amyloid fibrils that deposit in the heart and nervous tissue. Case… Click to show full abstract

Introduction: Hereditary TTR cardiac amyloidosis (ATTRv-CM) is a progressive and rare autosomal dominant disease, causing the formation of insoluble amyloid fibrils that deposit in the heart and nervous tissue. Case description: The authors present a 64-year-old man who was found to have the Phe33Leu mutation causing ATTRv-CM without any neurological signs or symptoms. He presented with persistent atrial fibrillation that was refractory to anti-arrhythmic medications and multiple ablations. He was diagnosed with ATTRv-CM by a Tc-99m pyrophosphate cardiac amyloid scan. Intervention: He was treated with tafamidis, torsemide and spironolactone therapy. The patient suffered cardiac arrest and passed away. Conclusion: Clinicians should be aware of the atypical presentations of ATTRv-CM without neurological signs.

Keywords: hereditary ttr; cardiac amyloidosis; ttr cardiac; phe33leu mutation

Journal Title: Future cardiology
Year Published: 2022

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