Characteristics of patients with suspected cardiac amyloidosis in Tuscany and Umbria: Insights from the cardiac amyloidosis RegistRY (CARRY)

Abstract

Background: Cardiac amyloidosis (CA) involves the deposition of misfolded proteins in the heart, most commonly light-chains (AL) or transthyretin (ATTR). Advancements in non-invasive diagnostics have challenged the classification of CA as a rare disease. The Cardiac Amyloidosis RegistRY (CARRY) provides updated insights into CA's epidemiology, diagnosis, and clinical features.

Methods: CARRY is a prospective, multicenter study across 20 hospitals in Tuscany and Umbria. All patients aged ≥18 years with suspected CA were enrolled between January and December 2022. Baseline demographic, clinical, laboratory, and imaging data were collected, including all tests required to confirm or rule out CA diagnosis.

Results: Among 553 patients with complete data (median age 79 years [interquartile range, IQR, 74-84], 70 % male), 87 % reported mild dyspnea, 32 % had a history of heart failure, and one-third reported carpal tunnel syndrome. Elevated cardiac biomarkers were prevalent, with a median NT-proBNP of 1015 ng/L (IQR 275-3198). Most patients exhibited a heart failure with preserved ejection fraction phenotype. No significant differences in clinical features were found between patients from university (referral centers) and non-university hospitals, though referral centers more often reported patients with hematologic disorders. Echocardiographic signs of overt CA were more frequent in non-university centers.

Conclusions: The CARRY registry highlights the clinical characteristics of patients with suspected CA, revealing that despite educational efforts, suspicion remains biased towards older patients with advanced disease. Increased awareness and earlier diagnosis, particularly with available disease-modifying therapies, are critical for improving outcomes.

Keywords: Amyloidosis; Diagnosis; Epidemiology.