Search

Aims Anterior T-wave inversion (TWI) is a recognized variant in athletes of African/Afro Caribbean origin and some endurance athletes; however, the presence of this specific repolarization anomaly also raises the possibility of cardiomyopathy. The differentiation between physiological adaptation and cardiomyopathy may be facilitated by examining other repolarization parameters, notably the J-point and the ST-segment. Methods and results We compared the electrocardiogram pattern of anterior TWI in a series of 80 healthy athletes (median age 21 years, 75% males); 95 patients with hypertrophic cardiomyopathy (HCM) (median age 46 years, 75% males), including 26 affected athletes; and 58 patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) (median age 32 years, 71% males), including 9 affected athletes. Athletes and patients were of either white/Caucasian or black/Afro Caribbean descent and showed TWI ≥1 mmin ≥2 contiguous anterior leads (V1-V4).We aimed to identify repolarization patterns for differentiating physiologic from pathologic TWI. After adjustment for age, gender, and ethnicity, J-point elevation, 1 mm (but no ST-segment elevation without J-point elevation) in the anterior leads showing TWI and TWI extending beyond V4 remained independent predictors for both ARVC, with OR = 569 (95% CI = 38-8545; P < 0.001) and OR = 6.0 (95% CI = 1.2-37.8; P = 0.03), respectively, and HCM with OR = 227 (95% CI = 12- 1620; P < 0.001) and OR = 331 (95% CI = 20-2752; P = 0.001), respectively. In athletes with anterior TWI, the combination of J-point elevation ≥1 mm and TWI not extending beyond V4 excluded a cardiomyopathy, either ARVC or HCM, with 100% sensitivity and 55% specificity. Conclusion The combination of J-point elevation and TWI confined to lead V1-V4 offers the potential for an accurate differentiation between 'physiologic' and 'cardiomyopathic' anterior TWI, among athletes of both white/Caucasian or black/Afro Caribbean descent. Conversely, ST-segment elevation without J-point elevation preceding anterior TWI may reflect cardiomyopathy. [ABSTRACT FROM AUTHOR]

Aims: In the EXPLORER-HCM trial, mavacamten reduced left ventricular outflow tract obstruction (LVOTO) and improved functional capacity of symptomatic hypertrophic obstructive cardiomyopathy (HOCM) patients. We sought to define the potential use of mavacamten by comparing real-world HOCM patients with those enrolled in EXPLORER-HCM and assessing their eligibility to treatment., Methods and Results: We collected information on HOCM patients followed up at 25 Italian HCM outpatient clinics and with significant LVOTO (i.e. gradient ≥30 mmHg at rest or ≥50 mmHg after Valsalva manoeuvre or exercise) despite pharmacological or non-pharmacological therapy. Pharmacological or non-pharmacological therapy resolved LVOTO in 1044 (61.2%) of the 1706 HOCM patients under active follow-up, whereas 662 patients (38.8%) had persistent LVOTO. Compared to the EXPLORER-HCM trial population, these real-world HOCM patients were older (62.1 ± 14.3 vs. 58.5 ± 12.2 years, p = 0.02), had a lower body mass index (26.8 ± 5.3 vs. 29.7 ± 4.9 kg/m 2 , p < 0.0001) and a more frequent history of atrial fibrillation (21.5% vs. 9.8%, p = 0.027). At echocardiography, they had lower left ventricular ejection fraction (LVEF, 66 ± 7% vs. 74 ± 6%, p < 0.0001), higher left ventricular outflow tract gradients at rest (60 ± 27 vs. 52 ± 29 mmHg, p = 0.003), and larger left atrial volume index (49 ± 16 vs. 40 ± 12 ml/m 2 , p < 0.0001). Overall, 324 (48.9%) would have been eligible for enrolment in the EXPLORER-HCM trial and 339 (51.2%) for treatment with mavacamten according to European guidelines., Conclusions: Real-world HOCM patients differ from the EXPLORER-HCM population for their older age, lower LVEF and larger atrial volume, potentially reflecting a more advanced stage of the disease. About half of real-world HOCM patients were found eligible to mavacamten., (© 2023 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

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.