Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy
Annals of Internal Medicine Sep 07, 2019
Peretto G, Di Resta C, Perversi J, et al. - Given the observed association between mutations in the LMNA (lamin A/C) gene and neuromuscular and cardiac manifestations, researchers sought to further ascertain the natural history of LMNA-related disease. They conducted an observational study of 164 carriers of an LMNA mutation at 13 clinical centers in Italy from 2000 through 2018. Overall, they reported the death of 10 patients (6%), heart transplantation in 14 (9%), and malignant ventricular arrhythmias in 32 (20%) patients. Gait loss was noted in 15 patients, and respiratory failure in 6 patients. Development of neurologic symptoms was noted in many patients with an LMNA mutation by their 30s. During the next decade, the development of progressive cardiac manifestations was observed. Life-threatening neurologic or cardiologic conditions develop in a substantial proportion of these patients.
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