Why the study?
The influence of LMNA variant type and localization on late gadolinium enhancement patterns and clinical outcomes remained unclear.
Does the presence of IgD-localizing LMNA variants predict specific LGE patterns and clinical outcomes in patients with LMNA-related cardiomyopathy?
Does the presence of IgD-localizing LMNA variants predict specific LGE patterns and clinical outcomes in patients with LMNA-related cardiomyopathy?
LMNA missense variants localizing to the IgD domain are associated with a distinct apical pseudo-infarct LGE pattern and an increased risk of ventricular arrhythmias and thromboembolic events.
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May aid arrhythmic risk assessment in LMNA cardiomyopathy; leaves open need for prospective validation before guiding therapy.
Castrichini et al. (2025) studied this question.
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