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Biventricular arrhythmogenic cardiomyopathy: a paradigmatic case

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      Arrhythmogenic Cardiomyopathy is a complex clinical entity, sometimes difficult to diagnose. Three main different patterns of disease expression characterize clinically this hereditary heart muscle disease: the “classic” right ventricular form (ARVC), the “left dominant” subtype (LDAC), with primary left ventricular involvement, and the “biventricular” variant, defined by parallel involvement of both ventricles.

      We report on a case of a 51 years old man with a strong family history of juvenile sudden cardiac death of supposed ischaemic origin and personal history of ventricular arrhythmias and supposed myocarditis. We demonstrate how an accurate anamnesis plus correct interpretation of traditional non invasive tests followed by more sophisticate new non invasive tests such as cardiac magnetic resonance and genetic testing allowed to reach the correct diagnosis.

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      Most cited references 10

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      Human Splicing Finder: an online bioinformatics tool to predict splicing signals

      Thousands of mutations are identified yearly. Although many directly affect protein expression, an increasing proportion of mutations is now believed to influence mRNA splicing. They mostly affect existing splice sites, but synonymous, non-synonymous or nonsense mutations can also create or disrupt splice sites or auxiliary cis-splicing sequences. To facilitate the analysis of the different mutations, we designed Human Splicing Finder (HSF), a tool to predict the effects of mutations on splicing signals or to identify splicing motifs in any human sequence. It contains all available matrices for auxiliary sequence prediction as well as new ones for binding sites of the 9G8 and Tra2-β Serine-Arginine proteins and the hnRNP A1 ribonucleoprotein. We also developed new Position Weight Matrices to assess the strength of 5′ and 3′ splice sites and branch points. We evaluated HSF efficiency using a set of 83 intronic and 35 exonic mutations known to result in splicing defects. We showed that the mutation effect was correctly predicted in almost all cases. HSF could thus represent a valuable resource for research, diagnostic and therapeutic (e.g. therapeutic exon skipping) purposes as well as for global studies, such as the GEN2PHEN European Project or the Human Variome Project.
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        ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association (HFA) of the ESC.

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          Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.

          In 1994, an International Task Force proposed criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) that facilitated recognition and interpretation of the frequently nonspecific clinical features of ARVC/D. This enabled confirmatory clinical diagnosis in index cases through exclusion of phenocopies and provided a standard on which clinical research and genetic studies could be based. Structural, histological, electrocardiographic, arrhythmic, and familial features of the disease were incorporated into the criteria, subdivided into major and minor categories according to the specificity of their association with ARVC/D. At that time, clinical experience with ARVC/D was dominated by symptomatic index cases and sudden cardiac death victims-the overt or severe end of the disease spectrum. Consequently, the 1994 criteria were highly specific but lacked sensitivity for early and familial disease. Revision of the diagnostic criteria provides guidance on the role of emerging diagnostic modalities and advances in the genetics of ARVC/D. The criteria have been modified to incorporate new knowledge and technology to improve diagnostic sensitivity, but with the important requisite of maintaining diagnostic specificity. The approach of classifying structural, histological, electrocardiographic, arrhythmic, and genetic features of the disease as major and minor criteria has been maintained. In this modification of the Task Force criteria, quantitative criteria are proposed and abnormalities are defined on the basis of comparison with normal subject data. The present modifications of the Task Force Criteria represent a working framework to improve the diagnosis and management of this condition. Clinical Trial Registration Identifier: NCT00024505.

            Author and article information

            [1 ]Laboratory of Cardiovascular Genetics, Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milano, Italy
            [2 ]Department of Cardiovascular Medicine, University of Pavia, Pavia, Italy
            [3 ]Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy
            [4 ]Department of Molecular Medicine, University of Pavia, Pavia, Italy
            [5 ]Department of Cardiology, S. Luca Hospital, IRCCS, Istituto Auxologico Italiano, Milano, Italy
            [6 ]Department of Health Sciences, University of Milano-Bicocca, Milano, Italy
            [7 ]Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
            Author notes
            [* ]Corresponding author's e-mail address: m.calcagnino@
            ScienceOpen Research
            20 February 2015
            : 0 (ID: dc4d1011-5129-42af-935e-0d5d00039c74 )
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            2578:XE 10.14293/S2199-1006.1.SOR-MED.AZGTGZ.v1
            © 2015 Calcagnino et al.

            This work has been published open access under Creative Commons Attribution License CC BY 4.0 , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Conditions, terms of use and publishing policy can be found at .

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