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

Overview

What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage. The investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation. What is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner. Personalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants. What does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.

Study Objective: This study aims to validate and apply novel Cardiac Magnetic Resonance (CMR) imaging biomarkers to improve the diagnostic precision and risk stratification of rare cardiomyopathies (e.g., cardiac amyloidosis, Fabry disease, Danon disease, Noonan disease). Clinical Problem: Rare cardiomyopathies are often challenging to diagnose due to overlapping phenotypic features with more common disorders and their heterogeneous presentation. Current risk stratification tools are imperfect, leading to delays in diagnosis and suboptimal timing of interventions. Methodology \& Innovation: The study will employ advanced CMR techniques that move beyond standard volumetric and functional assessment. This includes, but is not limited to: T1/T2 Mapping: For quantitative tissue characterization to detect diffuse fibrosis or edema without contrast. Extracellular Volume (ECV) Fraction: To quantify the expansion of the extracellular space, a key marker in amyloidosis and other infiltrative diseases. Feature Tracking Strain Analysis: To assess subtle myocardial deformation abnormalities that precede a decline in ejection fraction. Late Gadolinium Enhancement (LGE) Pattern Refinement: For more precise characterization of scar and infiltration patterns. Potential Impact for Clinical Practice: Referral \& Diagnosis: This research could provide more definitive, non-invasive diagnostic data, streamlining the referral pathway to specialist centers and reducing diagnostic odysseys for patients. Risk Stratification: The novel biomarkers investigated have the potential to offer superior prognostic value compared to current clinical models. This can aid in identifying high-risk patients earlier, guiding decisions regarding device therapy (ICD) initiation or referral for advanced therapies. Management: By providing a more detailed "tissue phenotype," the findings could help monitor disease progression and response to emerging targeted therapies more sensitively.