Case Session 02: Non-ischemic Cardiomyopathies (2018)-Myocardial Edema as a Novel Biomarker of Risk in Familial Dilated Cardiomyopathy

Myocardial Edema as a Novel Biomarker of Risk in Familial Dilated Cardiomyopathy

Video Transcription

Video Summary

A case report described two asymptomatic brothers with an RBM20 mutation and family history of familial dilated cardiomyopathy and sudden cardiac death. Although physical exams, ECGs, and echocardiograms were normal, cardiac MRI with T2 mapping revealed elevated T2 values suggesting early myocardial inflammation/abnormality, and one brother also had late gadolinium enhancement and mildly reduced ejection fraction. The findings suggest T2 mapping may detect early disease in genopositive individuals before overt cardiomyopathy develops, potentially improving risk stratification and enabling earlier cardioprotective treatment. Further studies in larger cohorts are needed.

Keywords

RBM20 mutation

familial dilated cardiomyopathy

cardiac MRI

T2 mapping

late gadolinium enhancement