Search

[Abstract] Introduction and objectives. According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) < 45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria. Methods. The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives). We considered: a) major arrhythmic events (MAE) if there was appropriate ICD discharge or sudden cardiac death; b) heart failure death if there was heart transplant or death due to heart failure. Results. We identified 11 novel and 21 previously reported LMNA-related DCM variants. LVEF < 45% (P = .001) and NSVT (P < .001) were related to MAE, but not sex or type of genetic variant. The only factor independently related to heart failure death was LVEF < 45% (P < .001). Conclusions. In the REDLAMINA registry cohort, the only predictors independently associated with MAE were NSVT and LVEF < 45%. Therefore, female carriers of missense variants with either NSVT or LVEF < 45% should not be considered a low-risk group. It is important to individualize risk stratification in carriers of LMNA missense variants, because not all have the same prognosis. [Resumen] Introducción y objetivos. Según las guías de muerte súbita, se debe considerar un desfibrilador automático implantable (DAI) para los pacientes con miocardiopatía dilatada debida a variantes en el gen de la lamina (LMNA) con al menos 2 factores: varones, fracción de eyección del ventrículo izquierdo (FEVI) < 45%, taquicardia ventricular no sostenida (TVNS) y variantes no missense. Nuestro objetivo es describir las características clínicas de una cohorte española de pacientes con cardiolaminopatías (registro REDLAMINA) y evaluar los criterios de riesgo vigentes. Métodos. Se evaluó la relación entre factores de riesgo y eventos cardiovasculares en una cohorte de 140 portadores de variantes en LMNA (54 probandos, 86 familiares, edad ≥ 16 años). Se consideró: a) evento arrítmico mayor (EAM) si hubo descarga apropiada del DAI o muerte súbita, y b) muerte por insuficiencia cardiaca, incluidos los trasplantes. Resultados. Se identificaron 11 variantes nuevas y 21 previamente publicadas. La FEVI < 45% (p = 0,001) y la TVNS (p < 0,001) se relacionaron con los EAM, pero no el sexo o el tipo de variante (missense frente a no missense). La FEVI < 45% (p < 0,001) fue el único factor relacionado con la muerte por insuficiencia cardiaca. Conclusiones. En el registro REDLAMINA, los únicos 2 predictores asociados con EAM fueron la TVNS y la FEVI < 45%. No se debería considerar grupo de bajo riesgo a las portadoras de variantes missense con TVNS o FEVI < 45%. Es importante individualizar la estratificación del riesgo de los portadores de variantes missense en LMNA, porque no todas tienen el mismo pronóstico. This study received a grant from the Proyecto de investigación de la Sección de Insuficiencia Cardiaca 2017 from the Spanish Society of Cardiology and grants from the Instituto de Salud Carlos III (ISCIII) [PI14/0967, PI15/01551, AC16/0014] and ERA-CVD Joint Transnational Call 2016 (Genprovic). Grants from the ISCIII and the Ministerio de Economía y Competitividad de España (Spanish Department of Economy and Competitiveness) are supported by the Plan Estatal de I+D+i 2013-2016: Fondo Europeo de Desarrollo Regional (FEDER) “Una forma de hacer Europa”.

Efficacy of standard cardiac resynchronisation therapy (CRT) by biventricular pacing via coronary sinus depends on the target site for left ventricular (LV) pacing, which in a not insignificant number of patients is limited by anatomical constraints. Direct His-bundle pacing (DHBP) is considered an alternative method of pacing for patients requiring cardiac stimulation in order to obviate detrimental effects of right ventricular pacing on LV function. However, its role in CRT has not been investigated, with scarce number of cases recently reported. We present a case of a heart failure patient in whom CRT was considered and treated by DHBP. In addition to electrical resynchronisation and optimal clinical response, echocardiography showed successful ventricular mechanical synchrony. To our knowledge, these latter findings are for the first time described in the setting of CRT by DHBP.

Aims Two-dimensional (2D) speckle echocardiography enables objective assessment of left ventricular function through the analysis of myocardial strain, which can be measured by different speckle-tracking software. The aim of this study was to compare two different commercially available cardiac ultrasound systems and their manufacturer-specific speckle-tacking software for the quantification of global myocardial strain in a healthy population. Methods and results Twenty-eight healthy subjects (age: 38 ± 12, 64% males) underwent two 2D echocardiograms within the same day using different cardiac ultrasound systems: Vivid 7 (GE Ultrasound, Horten, Norway) and Artida 4D (Toshiba Medical Systems). Standard apical and short-axis views of the left ventricle were obtained in each subject with a frame-rate range of 60 ± 20 frames/s. Global longitudinal, radial, and circumferential strain values were analysed using their respective speckle-tracking software for Vivid (2D-strain EchoPac PC v.7.0.1, GE Healthcare, Horten, Norway) and Toshiba systems (2D Wall Motion Tracking, Toshiba Medical Systems). Global strain values were estimated from the average of regional left ventricular strain values. Agreement between the two systems and software was assessed by Bland–Altman method. Mean left ventricular ejection fraction was 59 ± 7%. Global longitudinal, radial, and circumferential strain values were, respectively, −21.95 ± 1.8, 46.97 ± 5.5, and −23.18 ± 3.3% when using 2D-strain EchoPac and −22.28 ± 2.1, 40.74 ± 4.3, and −27.17 ± 4.7% when 2D Wall Motion Tracking was used ( P = NS). Limits of agreement between both speckle-tracking software were narrower for global longitudinal strain (−2.25 to 3.65) than for radial and circumferential strain (−2.23 to 12.44 and −1.36 to 10.54, respectively). Conclusion Two commercially available speckle-tracking software appear to be comparable when quantifying left ventricular function in a healthy population. Global longitudinal strain is a more robust parameter than radial and circumferential strain for the assessment of myocardial function when different cardiac ultrasound systems are used for analysis.

Aims Cardiac resynchronization therapy (CRT) has been demonstrated to improve the functional class of patients with refractory heart failure if QRS width is >120 ms. Addition of an internal cardioverter defibrillator diminishes the prevalence of mortality of such patients. The technique for CRT requires selective stimulation of the left ventricle (LV), commonly undertaken through the coronary sinus. This procedure is not always feasible. Direct His-bundle pacing (DHBP) might be an alternative for CRT. Methods and results Patients were selected from a population with refractory heart failure derived for CRT and internal cardioverter defibrillator insertion. Of those, patients in whom LV stimulation via the coronary sinus was not achievable and DHBP obtained left bundle branch block disappearance were included. Direct His-bundle pacing corrected basal conduction disturbances in 13 of the 16 patients (81%) selected. In four patients in whom DHBP was attempted, the electrode was not successfully fixed. In the nine remaining patients, a definitive resynchronization by DHBP was achieved, with consequent improvement in functional class and parameters of LV function as assessed by echocardiography. Conclusion Direct His-bundle pacing might be an alternative treatment for CRT in selected cases.

A 43-year-old man was admitted with acute episode of chest pain unrelated to exertion. His electrocardiogram showed increased complex voltages with extensive repolarization changes ( A ). A transthoracic echocardiogram revealed a dilated left ventricle (LV) with normal wall thickness at the base, good overall systolic function, and an undefined mass vs. thickening at the apex ( B ). Left ventricular opacification …