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ATTR Wild-Type Amyloidosis — RACP Adult Medicine MCQ

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HardCardiologyATTR Wild-Type AmyloidosisRACP Adult Medicine

An 80-year-old man presents with progressive heart failure with preserved ejection fraction and bilateral carpal tunnel syndrome. Echo shows severe biventricular hypertrophy. Technetium-99m-pyrophosphate (Tc-PYP) bone scintigraphy shows Grade 3 myocardial uptake. No monoclonal protein is detected. Genetic testing shows no TTR mutation. What is the most likely amyloid type?

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Correct answer: B — ATTR wild-type (senile) amyloidosis

Cardiac amyloidosis in an elderly man with bilateral carpal tunnel syndrome, Grade 3 uptake on Tc-PYP scan, no paraprotein, and no TTR mutation is ATTR wild-type (senile systemic) amyloidosis. Tc-PYP/DPD scintigraphy is highly sensitive and specific for ATTR cardiac amyloid (non-invasive diagnosis possible without biopsy if Grade 2-3 uptake + absent monoclonal protein). Treatment: tafamidis (TTR stabiliser — ATTR-ACT trial).

Reference: ESC – 2024 – Cardiac Amyloidosis; BSH 2024; ATTR-ACT Trial