Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Background: Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood. Objective: To learn more about the natural history of LMNA-related disease. Design: Observational study. Setting: 13 clinical centers in Italy from 2000 through 2018. Patients: 164 carriers of an LMNA mutation. Measurements: Detailed cardiologic and neurologic evaluation at study enrollment and for a median of 10 years of follow-up. Results: The median age at enrollment was 38 years, and 51% of participants were female. Neuromuscular manifestations preceded cardiac signs by a median of 11 years, but by the end of follow-up, 90% of the patients had electrical heart disease followed by structural heart disease. Overall, 10 patients (6%) died, 14 (9%) received a heart transplant, and 32 (20%) had malignant ventricular arrhythmias. Fifteen patients had gait loss, and 6 had respiratory failure. Atrial fibrillation and second- and third-degree atrioventricular block were observed, respectively, in 56% and 51% of patients with combined cardiac and neuromuscular manifestations and 37% and 33% of those with heart disease only. Limitations: Some of the data were collected retrospectively. Neuromuscular manifestations were more frequent in this analysis than in previous studies. Conclusion: Many patients with an LMNA mutation have neurologic symptoms by their 30s and develop progressive cardiac manifestations during the next decade. A substantial proportion of these patients will have life-threatening neurologic or cardiologic conditions. Primary Funding Source: None.

Electrocardiographic and clinical predictors for permanent pacemaker requirement after transcatheter aortic valve implantation: a 10-year single center experience.

BACKGROUND: The aim of this study is to identify clinical, electrocardiographic (ECG) and procedural predictors for permanent pacemaker (PPM) requirement after transaortic valve implantation (TAVI). METHODS: All consecutive patients with severe symptomatic aortic stenosis (SSAS) undergoing TAVI at our single center were included in the study and prospectively followed. All patients had standard 12-leads ECGs recordings before and after TAVI and continuous ECG monitoring during hospital stay. Primary endpoint was to identify electrocardiographic predictors of PPM implantation after TAVI; secondary endpoint was to ascertain other clinical or procedure-related predictive factors of PPM need. PPM implantation was further arbitrarily divided into early and late one (beyond the 3rd day). RESULTS: Among the 431 patients undergoing TAVI between 2008 and 2018, 77 (18%) needed PPM implantation; 47 (11%) had an early procedure, and 30 (7%) a late implant. Preoperative right bundle branch block (RBBB) implies more than five-fold increase of the risk of PPM implantation (OR 5.19, CI 1.99-13.56, P=0.001), whereas the use of a self-expandable prosthesis is associated with an almost three-fold increase of the risk (OR 2.60, CI 1.28-5.28, P=0.008). In the late PPM implantation subgroup, only the history of syncope retains a significant association with such an increased risk (OR 2.71, CI 1.09-6.75, P=0.032). CONCLUSIONS: The need of a PPM in the individual TAVI patient is hardly predictable. However, the finding of pre-existing RBBB, the use of self-expandable prosthesis and history of syncope can individuate patients at increased risk.