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Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level. Typically, cardiomyopathy begins as a "presymptomatic" stage in the first decade of life and evolves in a stepwise manner toward an end-stage dilated cardiomyopathy. Nearly complete replacement of the myocardium by fibrous and fatty connective tissue results in an irreversible cardiac failure, characterized by a further reduction of ejection fraction (EF < 30%) and frequent episodes of acute heart failure (HF). The picture of a severe dilated cardiomyopathy with intractable heart failure is typical of dystrophinopathies. Despite an appropriate pharmacological treatment, this condition is irreversible because of the extensive loss of myocites. Heart transplantation is the only curative therapy for patients with end-stage heart failure, who remain symptomatic despite an optimal medical therapy. However there is a reluctance to perform heart transplantation (HT) in these patients due to the scarcity of donors and the concerns that the accompanying myopathy will limit the benefits obtained through this therapeutic option. Therefore the only possibility to ameliorate clinical symptoms, prevent fatal arrhythmias and cardiac death in dystrophinopathic patients could be the implantation of intracardiac device (ICD) or resynchronizing devices with defibrillator (CRT-D). This overview reports the personal series of patients affected by DMD and BMD and DMD carriers who received ICD or CRT-D system, describe the clinical outcomes so far published and discuss pro and cons in the use of such devices.

International audience; Let F/Q be a CM field where p splits completely and let r : Gal(Q/F) → GL 3 (Fp) be a Galois representation whose restriction to Gal(Q p /Fw) is ordinary and strongly generic for all places w above p. In this paper we specify the set of Serre weights in which r can be modular. To this aim, we develop a technique in integral p-adic Hodge theory to describe extensions of rank-one Breuil modules.

BACKGROUND: Our objective was to explore the right ventricular (RV) dimensions and function and the effect of long-term intensive training in a large population of top level athletes using real-time three-dimensional (3D) echocardiography. METHODS: A total of 430 top-level athletes (220 endurance-trained athletes [ETAs] and 210 strength-trained athletes; 265 men [61.6%]; mean age 27.4 ± 10.1 years, range 18-40) and 250 healthy controls underwent a transthoracic echocardiographic examination. Three-dimensional RV measurements included serial short-axis reconstructions of the RV volumetric data sets, and the RV endocardial contour was traced with cross-reference to the long-axis images for identification of the tricuspid annulus. The end-diastolic and end-systolic RV volumes and ejection fraction were calculated off-line using the method of the summation of discs. RESULTS: The strength-trained athletes had a greater heart rate, body surface area, and systolic blood pressure at rest than the ETAs and controls. All RV diameters and 3D volumes and all transmitral and transtricuspid Doppler indexes were greater in the ETAs. Also, the left ventricular stroke volume, cardiac index, and pulmonary artery systolic pressure were greater in the ETAs, and all two-dimensional and 3D RV systolic indexes were comparable. On univariate analysis, the 3D RV end-diastolic volume was significantly associated with advanced age, male gender, duration of training, endurance training, increased left ventricular stroke volume, and pulmonary artery systolic pressure. On multivariate analysis, in the overall study population, the type and duration of training (P < .01), pulmonary artery systolic pressure (P < .01), and left ventricular stroke volume (P < .001) were the only independent predictors of RV end-diastolic volume. CONCLUSIONS: The results of the present study have delineated the upper limits of the RV dimensions in highly trained athletes as measured by real-time 3D echocardiography. The RV end-diastolic volume was significantly greater in the ETA than in the strength-trained athletes and controls.