Unraveling cardiac amyloidosis in Egypt: diagnostic challenges and disease outcomes

Abstract Background Cardiac amyloidosis is an infiltrative cardiomyopathy caused by extracellular deposition of insoluble amyloid fibrils. Despite the growing global recognition of cardiac amyloidosis and the recent development of targeted therapeutic strategies for specific amyloidosis subtypes, demographic and epidemiological data regarding cardiac amyloidosis in Egypt remain limited. The aim of the study was to describe the demographic and clinical characteristics of cardiac amyloidosis in Egyptian patients; and to identify the diagnostic challenges associated with cardiac amyloidosis and the disease-related outcomes. Results Among 84 patients initially evaluated for suspected cardiac amyloidosis at tertiary care facility in Egypt, 70 were confirmed to have the disease. The mean interval from symptom onset to diagnosis was 11.86 months. AL amyloidosis was the most common subtype, followed by AA amyloidosis. ATTR amyloidosis accounted for only 4.3% of cases, while the specific amyloidosis subtype could not be identified in 21.4% of patients. New complications developed in 21.4% of patients, with renal complications being the most common. The study observed a high mortality rate, with 48.6% of patients dying during the study period. Conclusions This tertiary care center study of cardiac amyloidosis in Egyptian patients demonstrated a substantial diagnostic delay and poor clinical outcomes. In our study cohort, the most common subtype was AL amyloidosis and nearly half of the study population died during the study period, highlighting the advanced stage of disease at presentation and its grave prognosis. These findings underscore the need for greater clinical awareness, streamlined diagnostic pathways and improved access to comprehensive diagnostic modalities to ensure timely diagnosis and optimal patient care.