Misfolded Fate: A Case Report of Transthyretin Cardiac Amyloidosis in Ghana

Cardiac amyloidosis (CA), an entity once considered rare, is increasingly being diagnosed due to increasing awareness, more accessible diagnostic methods, and the recently available disease-modifying therapy. An 85-year-old woman with a history of long-standing hypertension, which has been well controlled, is diagnosed with heart failure with preserved ejection fraction. The 12-lead electrocardiogram showed red flags for amyloidosis. Transthoracic echocardiography showed unexplained biventricular hypertrophy. Cardiac scintigraphy showed a Perugini score of grade 3, consistent with cardiac amyloidosis. Serum free light chain ratio was normal, and monoclonal bands were absent on the electrophoresis of serum proteins. Genetic testing was not done due to limitations. The patient was treated with a sodium-glucose cotransporter-2 inhibitor (SGLT2i) and a mineralocorticoid receptor antagonist (MRA), without disease-modifying therapy such as tafamidis. This case highlights cardiac amyloidosis in a female patient and the feasibility of the non-biopsy pathway for diagnosing transthyretin cardiac amyloidosis in Ghana and across the broader African region. This condition is significantly underrecognized in the sub-region, despite the expectation that genetic variants are common.