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Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy

Annals of Internal Medicine Oct 08, 2019

Peretto G, Di Resta C, Perversi J, et al. - Through an observational study done at 13 clinical centers in Italy from 2000 through 2018, of 164 carriers of an LMNA mutation, researchers intended to gain more knowledge regarding the natural history of LMNA-related disease since it has been correlated with neuromuscular and cardiac indications. Nearly 90% of the individuals had electrical heart disease followed by structural heart disease. In all, 10 individuals died, 14 got a heart transplant done, and 32 had malignant ventricular arrhythmias. Gait loss and respiratory failure was noted in 15 and six individuals, respectively. In 56% and 51% of patients with combined cardiac and neuromuscular indications, atrial fibrillation and second- and third-degree atrioventricular block were noted, respectively, and 37% and 33% of them with heart disease only. Hence, by their 30s, many individuals with an LMNA mutation have neurologic symptoms and acquire progressive cardiac manifestations during the next decade. Moreover, a principal proportion of these patients would have life-threatening neurologic or cardiologic conditions.
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