Lecture - Imaging the Genetic Blueprint - CMR Phenotypes of Inherited Heart Disease
The role of CMR in genetic conditions affecting the heart
This was my talk at IACI last Saturday. I covered 3 buckets.
1. Known genetic conditions that affect the heart - imaging the heart to quantify and type the abnormality
2. Known genetic risk with equivocal or normal echo - to see whether the heart is normal or not on CMR
3. Signs that point towards a genetic cardiomyopathy in a patient with dilated cardiomyopathy that would initiate genetic testing
a. Hypertrabeculation
b. Ring-like enhancement
c. Biventricular involvement
d. Inferolateral scar
and the concept of a shrinking "idiopathic" cause of dilated cardiomyopathies.
Previous Posts
Case 263 - MINOCA
MINOCA needs to be understood well by radiologists and cardiologists, so that CMR, which is the cornerstone is performed at the earliest, rather than later.
Bhavin Jankharia
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Case of the Day 101 - 2025 09 11 - MYH7 Dilated Cardiomyopathy and LV Reverse Remodeling
MYH7 is the 3rd commonest inheritable cause of genetic dilated cardiomyopathy. All ”idiopathic” DCMs must have genetic testing done to determine prognosis, arrhythmogenic vs heart failure possibilities and to diagnose possible disease in family members if a definite gene is identified
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Case 114: “Ring-Like” Enhancement
“Ring-like” enhancement lowers the threshold for genetic testing in patients with dilated cardiomyopathy.
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Case of the Day on YouTube
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