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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 6

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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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            Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

            The aims of this study were to determine the spectrum and prevalence of "background genetic noise" in the arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) genetic test and to determine genetic associations that can guide the interpretation of a positive test result. ARVC is a potentially lethal genetic cardiovascular disorder characterized by myocyte loss and fibrofatty tissue replacement of the right ventricle. Genetic variation among the ARVC susceptibility genes has not been systematically examined, and little is known about the background noise associated with the ARVC genetic test. Using direct deoxyribonucleic acid sequencing, the coding exons/splice junctions of PKP2, DSP, DSG2, DSC2, and TMEM43 were genotyped for 93 probands diagnosed with ARVC from the Netherlands and 427 ostensibly healthy controls of various ethnicities. Eighty-two additional ARVC cases were obtained from published reports, and additional mutations were included from the ARVD/C Genetic Variants Database. The overall yield of mutations among ARVC cases was 58% versus 16% in controls. Radical mutations were hosted by 0.5% of control individuals versus 43% of ARVC cases, while 16% of controls hosted missense mutations versus a similar 21% of ARVC cases. Relative to controls, mutations in cases occurred more frequently in non-Caucasians, localized to the N-terminal regions of DSP and DSG2, and localized to highly conserved residues within PKP2 and DSG2. This study is the first to comprehensively evaluate genetic variation in healthy controls for the ARVC susceptibility genes. Radical mutations are high-probability ARVC-associated mutations, whereas rare missense mutations should be interpreted in the context of race and ethnicity, mutation location, and sequence conservation. Copyright © 2011 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
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              Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.

              Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities of the right ventricle (RV). Several disease loci have been identified. Mutations in desmoplakin have recently been isolated in both autosomal-dominant and autosomal-recessive forms of ARVC. Primary left ventricular (LV) variants of the disease are increasingly recognized. We report on a large family with autosomal-dominant left-sided ARVC. The proband presented with sudden cardiac death and fibrofatty replacement of the LV myocardium. The family was evaluated. Diagnosis was based on modified diagnostic criteria for ARVC. Seven had inferior and/or lateral T-wave inversion on ECG, LV dilatation, and ventricular arrhythmia, predominantly extrasystoles of LV origin. Three had sustained ventricular tachycardia; 7 had late potentials on signal-averaged ECG. Cardiovascular magnetic resonance imaging in 4 patients revealed wall-motion abnormalities of the RV and patchy, late gadolinium enhancement in the LV, suggestive of fibrosis. Linkage confirmed cosegregation to the desmoplakin intragenic marker D6S2975. A heterozygous, single adenine insertion (2034insA) in the desmoplakin gene was identified in affected individuals only. A frameshift introducing a premature stop codon with truncation of the rod and carboxy terminus of desmoplakin was confirmed by Western blot analysis. We have described a new dominant mutation in desmoplakin that causes left-sided ARVC, with arrhythmias of LV origin, lateral T-wave inversion, and late gadolinium enhancement in the LV on magnetic resonance images. Truncation of the carboxy terminus of desmoplakin and consequent disruption of intermediate filament binding may account for the predominant LV phenotype.

                Author and article information

                ScienceOpen Research
                20 February 2015
                : 0 (ID: dc4d1011-5129-42af-935e-0d5d00039c74 )
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                [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@
                © 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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                Figures: 3, Tables: 0, References: 13, Pages: 5
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