Improving Diagnosis and Risk Assessment of Rare Heart Muscle Diseases Using Advanced Cardiac Magnetic Resonance Imaging in a Multicenter Study

What this Trial Is About

Researchers are evaluating new advanced heart scan techniques using Cardiac Magnetic Resonance CMR imaging to improve diagnosis and risk assessment for people with rare heart muscle diseases, called rare cardiomyopathies. These diseases cause changes to the heart muscle that make it harder to pump blood, and are often hard to diagnose and manage. The study aims to better identify these conditions and predict future heart risks to enable more personalized care. The study uses novel CMR imaging biomarkers such as T1T2 Mapping for tissue characterization, Extracellular Volume Fraction to detect tissue changes, Feature Tracking Strain Analysis for subtle heart muscle function, and refined Late Gadolinium Enhancement patterns to more accurately show scarring or infiltration. These techniques go beyond standard heart scans and may help diagnose rare cardiomyopathies like cardiac amyloidosis, Fabry disease, Danon disease, and Noonan disease. Participants will undergo CMR scans using these advanced methods. Participants who join will have their heart imaged with these specialized CMR scans. The researchers will collect data on outcomes such as overall survival, cardiovascular death, heart transplantation, hospitalizations, and device implantations over 2 to 15 years. This will help track disease progression and evaluate the predictive value of the new imaging methods. The study is observational and aims to improve diagnosis, risk prediction, and management for people with rare cardiomyopathies.

Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques