Detecting Early Transthyretin Cardiac Amyloidosis in Adults Ages 30 to 80 Who Carry the V122I TTR Gene Variant

What this Trial Is About

Researchers are studying hereditary cardiac amyloidosis hATTR-CA, a condition primarily affecting Black individuals carrying the V122I transthyretin TTR gene variant. This condition causes heart failure and early death, often diagnosed late due to limited early detection tools. The study aims to detect early, subclinical signs of hATTR-CA and identify biomarkers that show amyloid progression in V122I TTR carriers. Participants include V122I TTR carriers without heart failure, matched non-carrier controls, and patients with symptomatic V122I hATTR-CA. The study uses detailed cardiac magnetic resonance imaging CMRI, including exercise CMRI for some participants, to assess amyloid infiltration and cardiac function. Biomarker assessments measuring TTR-related proteins and misfolded TTR oligomers are also performed to evaluate their relationship with imaging findings and disease presence. Participants undergo baseline CMRI and biomarker assessments to compare heart tissue characteristics and protein markers among carriers, controls, and symptomatic patients. The study measures outcomes like extracellular volume, stroke volume index during exercise, and concentrations of specific amyloid-related biomarkers. This observational study involves a single assessment visit, with data collected to improve early diagnosis tools and understanding of hATTR-CA progression in this patient population.

Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers