arrhythmogenic right ventricular dysplasia/cardiomyopathy (arvd/c) is a congenital cardiac disease with myocardial involvement, most probably right ventricular (rv) dysfunction, accounting for 20% of sudden cardiac deaths. characterized by the fibro-fatty infiltration of the rv free wall, arvd/c presents in adolescents with ventricular arrhythmias and heart failure symptoms and as biventricular...

Cardiac magnetic resonance imaging (CMR) has undergone considerable technology advances in recent years, so that it is now entering into mainstream cardiac imaging practice. In particular, CMR is proving to be a valuable imaging tool in the detection, morphological assessment and functional assessment of cardiomyopathies. Although our understanding of this broad group of heart disorders continu...

Mammalian Rap1, the most conserved telomere-interacting protein, beyond its role within nucleus for the maintenance of telomeric functions, is also well known for its pleiotropic functions in various physiological and pathological conditions associated with metabolism, inflammation and oxidative stress. For all these, nowadays Rap1 is the subject of critical investigations aimed to unveil its m...

225 miR-218 and mi-R34a drive persistent myocardial oxidative stress by targeting chromatin remodelers DNMT3b and SIRT1: new mechanistic insights in diabetic cardiomyopathy S. Costantino1; F. Paneni1; K. Mitchell2; L. Berrino3; C. Schwarzwald2; M. Volpe4; TF. Luscher5; F. Cosentino1 Karolinska Institute, Cardiology Unit, Stockholm, Sweden; University of Zurich, Veterinary physiology, Zurich, Sw...

Thomas J. LaRocca, Frank Fabris, Jiqiu Chen, Daniel Benhayon, Shihong Zhang, LaTronya McCollum, Alison D. Schecter, Joseph Y. Cheung, Eric A. Sobie, Roger J. Hajjar, and Djamel Lebeche Cardiovascular Research Institute, Mount Sinai School of Medicine, New York, New York; Department of Pharmacology and System Therapeutics, Mount Sinai School of Medicine, New York, New York; and Division of Nephr...

From the Department of Genetics,* Harvard Medical School, Boston; the Cardiovascular Division,y Brigham and Women’s Hospital and Harvard Medical School, Boston; the Laboratory for Molecular Medicine,z Partners HealthCare Center for Personalized Genetic Medicine, Boston; and the Department of Pathology,x Massachusetts General Hospital, Brigham and Women’s Hospital and Harvard Medical School, Bos...

Copyright © 2011 Massachusetts Medical Society. I nherited cardiomyopathies are a major cause of heart disease in all age groups, often with an onset in adolescence or early adult life. Not only the patients but also their families can be severely burdened by these illnesses. More than 20 years ago, the first “disease gene” for hypertrophic cardiomyopathy was identified.1,2 This finding led to ...

The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morpho...

Cardiomyopathies are chronic diseases of heart muscle, in which the muscle is abnormally enlarged, thickened, and/or stiffened (1). According to American Heart Association, “Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation...

Diabetic nephropathy (DN) remains a leading cause of mortality worldwide despite advances in its prevention and management. A comprehensive understanding of factors contributing to DN is required to develop more effective therapeutic options. It is becoming more evident that histone acetylation (HAc), as one of the epigenetic mechanisms, is thought to be associated with the etiology of diabetic...