Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.

Abstract Dominant inherited Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B are due to mutations in the LMNA gene encoding lamin A/C and present similar life-threatening cardiac disease, the early diagnosis of which lacks reliable biomarkers. Glutathione depletion characterizes subjects with cardiac diseases of non-genetic aetiology. We examined blood glutathione in 22 LMNA -mutated subjects without altered left ventricular ejection fraction (LVEF > 40%) measured by conventional echocardiography. Left and right ventricular (LV/RV) contractility was evaluated using echocardiography implemented with tissue-Doppler echography. Blood glutathione was positively correlated with LV and RV contractility ( p p  = 0.01). Blood glutathione decrease may allow the detection of reduced contractility in muscular dystrophic LMNA -mutated patients with still preserved LVEF.