Hidden in Plain Sight: Clinical Profile, Diagnosis, and Outcomes of Cardiac Amyloidosis in Cali, Colombia

Background Cardiac amyloidosis is an increasingly recognized cause of heart failure in older adults, yet data from Colombia and, in particular, from the country’s southwest region remain scarce. We describe the clinical, diagnostic, imaging, and outcome profile of patients with cardiac amyloidosis at two high-complexity institutions in Cali. Methods Observational, descriptive, retrospective, two-center study. Patients were identified through the institutional registries of both centers using ICD-10 diagnostic codes for amyloidosis, and clinical information was collected manually from medical records. Continuous variables are reported as median (interquartile range) and categorical variables as counts and percentages, with the number of patients with available data specified for each variable. Results Thirty-two patients were analyzed (median age 77 years; 68.8% men). Heart failure was nearly universal (90.6%) and atrial fibrillation was frequent (46.9%); carpal tunnel syndrome was present in 31.2%. Bone scintigraphy showed positive myocardial uptake (Perugini 2–3) in 88.5%, and the Val142Ile variant was found in all genotyped patients, consistent with a predominance of transthyretin amyloidosis. Left ventricular ejection fraction was preserved in most patients despite marked concentric hypertrophy. Tafamidis was used in 37.5%. Overall mortality was 35.5%, and NT-proBNP was markedly higher among patients who died (median 6640 vs 1186 pg/mL; p=0.003). Conclusions In this southwest Colombian cohort, cardiac amyloidosis presented as the classic transthyretin phenotype of the older male with hypertrophic, non-dilated heart failure, a high yield of non-invasive diagnosis, and a striking predominance of the Val142Ile variant. Mortality was high and closely linked to NT-proBNP.