Cardiac Amyloidosis Medical Slides

Present a stepwise pathway: (1) clinical suspicion from red flags (LVH + low voltage, HFpEF + carpal tunnel + spinal stenosis), (2) serum free light chains + SPEP/UPEP to exclude AL, (3) if light chains normal, technetium pyrophosphate (Tc-PYP) scan — Grade 2-3 uptake with negative light chains = ATTR-CM without biopsy (specificity 100% per Gillmore 2016), (4) if light chains abnormal, tissue biopsy with Congo red staining and mass spectrometry typing is mandatory.

Reference the ATTR-ACT trial (2018): tafamidis 80 mg reduced all-cause mortality by 30% and CV hospitalization by 32% in ATTR-CM over 30 months (NNT 8 for mortality). Emphasize that benefit was concentrated in NYHA class I-II patients, supporting early diagnosis and treatment. Discuss the recent ATTR-ACT long-term extension showing sustained mortality benefit and the ongoing studies of gene-silencing therapies (patisiran-APOLLO-B, vutrisiran).

Wild-type ATTR (ATTRwt, formerly senile cardiac amyloidosis) affects predominantly men >65 years with isolated cardiac involvement and bilateral carpal tunnel syndrome preceding HF by 5-10 years. Hereditary ATTR (ATTRv) has variable phenotype by mutation — V122I (3.4% of African Americans, cardiomyopathy-dominant), T60A (mixed cardiac-neuropathic), V30M (neuropathy-dominant). Genetic testing is essential because hereditary ATTR qualifies for additional therapies and requires family screening.