For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
26
views
7
references
 Top references
cited by
5
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
1 collections
    0
    shares
      432
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found

      Left Ventricular Hypertrabeculation/Noncompaction with PMP22 Duplication-Based Charcot-Marie-Tooth Disease Type 1A

      case-report

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.

          Related collections

          Most cited references7

          • Record: found
          • Abstract: found
          • Article: not found

          Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.

          Georgine Faulkner, Zeev Perles, Fang-Ju Chen … (2003)
          We evaluated the role of Cypher/ZASP in the pathogenesis of dilated cardiomyopathy (DCM) with or without isolated non-compaction of the left ventricular myocardium (INLVM). Dilated cardiomyopathy, characterized by left ventricular dilation and systolic dysfunction with signs of heart failure, is genetically transmitted in 30% to 40% of cases. Genetic heterogeneity has been identified with mutations in multiple cytoskeletal and sarcomeric genes causing the phenotype. In addition, INLVM with a hypertrophic dilated left ventricle, ventricular dysfunction, and deep trabeculations, is also inherited, and the genes identified to date differ from those causing DCM. Cypher/ZASP is a newly identified gene encoding a protein that is a component of the Z-line in both skeletal and cardiac muscle. Diagnosis of DCM was performed by echocardiogram, electrocardiogram, and physical examination. In addition, levels of the muscular isoform of creatine kinase were measured to evaluate for skeletal muscle involvement. Cypher/ZASP was screened by denaturing high performance liquid chromatography (DHPLC) and direct deoxyribonucleic acid sequencing. We identified and screened 100 probands with left ventricular dysfunction. Five mutations in six probands (6% of cases) were identified in patients with familial or sporadic DCM or INLVM. In vitro studies showed cytoskeleton disarray in cells transfected with mutated Cypher/ZASP. These data suggest that mutated Cypher/ZASP can cause DCM and INLVM and identify a mechanistic basis.
          Article 0 comments Cited 84 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Left ventricular hypertrabeculation/noncompaction.

            Claudia Stollberger, Josef Finsterer (2004)
            In normal human hearts the left ventricle (LV) has up to 3 prominent trabeculations and is, thus, less trabeculated than the right ventricle. Rarely, more than 3 prominent trabeculations can be found at autopsy and by various imaging techniques in the LV. For this abnormality, different synonyms are used such as spongy myocardium, LV noncompaction, and LV hypertrabeculation (LVHT). In this review it is stated that: (1) LVHT has a higher prevalence than previously thought and the prevalence of LVHT seems to increase with the improvement of cardiac imaging; (2) because LVHT is most frequently diagnosed primarily by echocardiography, echocardiographers should be aware and trained to recognize this abnormality; (3) LVHT is frequently associated with other cardiac and extracardiac, particularly neuromuscular, disorders; (4) there are indications that the cause of LVHT is usually a genetic one and quite heterogeneous; and (5) controversies exist about diagnostic criteria, nomenclature, prognosis, origin, pathogenesis, and the necessity to classify LVHT as a distinct entity and cardiomyopathy by the World Health Organization.
            Article 0 comments Cited 59 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              Connexin gene mutations in human genetic diseases

              Vladimir Krutovskikh, Hiroshi Yamasaki (2000)
              Article 0 comments Cited 7 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (publisher-id): CRD
                Journal ID (nlm-ta): Cardiology
                Journal ID (doi): 10.1159/issn.0008-6312
                Title: Cardiology
                Publisher: S. Karger AG
                ISSN (Print): 0008-6312
                ISSN (Electronic): 1421-9751
                Publication date Subscription-year: 2006
                Publication date (Print): March 2006
                Publication date (Electronic): 03 April 2006
                Volume: 105
                Issue: 3
                Pages: 142-145
                Affiliations
                aUnita Operativa di Cardiologia and bUnita Operativa di Neurologia, Ospedale Valduce, Como, Italy; cSecond Medical Department and dDepartment of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria
                Article
                Publisher ID: 91152 Other ID: Cardiology 2006;105:142–145
                DOI: 10.1159/000091152
                PubMed ID: 16449811
                SO-VID: dbf71b0e-6cf3-41fb-8f64-443a6f21342d
                Copyright © © 2006 S. Karger AG, Basel
                License:

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Date received : 29 August 2005
                Date accepted : 08 November 2005
                Page count
                Figures: 1, Tables: 1, References: 10, Pages: 4
                Categories
                Subject: Original Research

                ScienceOpen disciplines: General medicine,Neurology,Cardiovascular Medicine,Internal medicine,Nephrology
                Keywords: Trabeculation, abnormal,Heart disease,Neuropathy, hereditary,Cardiac involvement,Cardiomyopathy, hypertrophic
                Data availability:
                ScienceOpen disciplines: General medicine, Neurology, Cardiovascular Medicine, Internal medicine, Nephrology
                Keywords: Trabeculation, abnormal, Heart disease, Neuropathy, hereditary, Cardiac involvement, Cardiomyopathy, hypertrophic

                Comments

                Comment on this article

                scite_

                Similar content432

                See all similar

                Cited by5

                See all cited by

                Most referenced authors94

                See all reference authors