First report of the clinical characteristics and outcomes of cardiac amyloidosis in Saudi Arabia

Abstract Aims Cardiac amyloidosis (CA) is a potentially fatal multisystemic disease that remains significantly underdiagnosed, particularly in the Middle East. This study aims to evaluate the prevalence and clinical characteristics of CA in a high‐risk population at a tertiary centre in Saudi Arabia. Methods This cross‐sectional, retrospective, single‐centre study was conducted at a tertiary hospital in Riyadh, Saudi Arabia. We reviewed the medical records of heart failure patients seen between August 2018 and July 2022 who exhibited red flags for CA and subsequently underwent CA screening. Red flags that prompted the workup included at least two of the following factors: the presence of unilateral or bilateral carpal tunnel syndrome, a family history of transthyretin amyloid (ATTR) amyloidosis and specific electrocardiographic features (relative/absolute low QRS voltage, pseudoinfarct pattern and atrioventricular/interventricular conduction abnormalities). Echocardiographic red flags included mainly increased wall thickness (≥12 mm), significant diastolic dysfunction, reduced left ventricular (LV) longitudinal function, right ventricular (RV) dysfunction and elevated right atrial (RA)/pulmonary artery (PA) pressure. Cardiac magnetic resonance (CMR) red flags included aspects similar to those in an echocardiogram as well as a subendocardial or transmural late gadolinium enhancement (LGE) pattern. These patients were assessed for CA through technetium‐99m pyrophosphate ([99mTc]Tc‐PYP) bone scintigraphy, serum and urine protein electrophoresis with immunofixation and a serum‐free light chain assay. Results A total of 177 patients were screened, of which 21.0 (11.9%) patients were diagnosed with transthyretin amyloid CA (ATTR‐CA) and 13 (7.3%) patients were diagnosed with light chain CA (AL‐CA). Compared with patients with negative/equivocal [99mTc]Tc‐PYP scans (grades 0–1), patients with positive [99mTc]Tc‐PYP scans (grades 2–3) were older (78.0 vs. 68.0 years, P