Unusual Presentation of Rare Phe33Leu Mutation in Hereditary Ttr Cardiac Amyloidosis

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.The authors present the case of a 64-year-old man who was found to have hereditary TTR cardiac amyloidosis, a progressive and rare disease. His disease was caused by a rare mutation, which resulted in insoluble protein deposition into his heart. The patient initially presented with abnormal heart rhythm with partial response to medications and/or procedures. After extensive testing, he was found to have TTR cardiac amyloidosis. He was treated with tafamidis therapy, a medication that decreases the deposition of the insoluble protein in the body. He was also treated with diuretics for fluid overload.