The added value of contrast-enhanced cardiac magnetic resonance to predict positive genetic testing in clinically suspected Lamin A/C cardiomyopathy

Abstract Background Lamin A/C cardiomyopathy (CM) is an inherited disease due to LMNA gene mutation with particular phenotype that associates conduction disorders, frequent atrial fibrillation and life-threatening ventricular arrhythmias, with normal or altered ventricular systolic function. Cardiac magnetic resonance (CMR) studies suggest frequent late gadolinium enhancement (LGE) involving septal mid-myocardium. Aims To assess the added value of CMR to conventional clinical features of Lamin A/C CM for the prediction of a positive LMNA gene testing. Methods We performed a retrospective monocentric study in all index patients referred for genetic testing for a clinical suspicion of Lamin A/C CM. Clinical, ECG and imaging data including CMR at time of genetic testing in patients with a positive test (LMNA+) and patients without (LMNA-) were compared. The diagnostic performances of relevant parameters for the prediction of a positive LMNA gene testing were analyzed in several logistic regression models. Results 90 patients were included (55 LMNA+, 35 LMNA-).49% had significant left ventricular (LV) dilatation on echocardiography,57% had a LV ejection fraction (LVEF)