Does the presence of recognized genetic mutations affect the pattern of myocardial fibrosis assessed by CMR with T1 mapping in patients with hypertrophic cardiomyopathy?
In patients with hypertrophic cardiomyopathy, the presence of genetic mutations is associated with a distinct fibrotic phenotype characterized by more regional but less diffuse myocardial fibrosis on CMR.
In HCM, contrast-enhanced CMR with T1 mapping can non-invasively evaluate regional and diffuse patterns of myocardial fibrosis. These patterns of fibrosis occur independently of each other and exhibit distinct clinical associations. HCM patients with recognized genetic mutations have significantly more regional, but less diffuse myocardial fibrosis than those without.
Ellims et al. (Mon,) studied this question.
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