Blog
About

0
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found

      Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

      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

          Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal. Blood pressure was 150/90 mm Hg. Funduscopy, 24-hour ambulatory ECG, and 24-hour blood pressure monitoring were normal. ECG showed incomplete right bundle branch block, ST elevation in V2–V4, tall T waves in V3–V5, and hypertrophy signs. Echocardiography revealed left ventricular myocardial thickening of the posterior wall (11.7 mm) and the septum (15.5 mm). In conclusion, CI in genetically confirmed FSHMD may manifest not only as ECG abnormalities but also as left ventricular myocardial thickening.

          Related collections

          Most cited references 11

          • Record: found
          • Abstract: found
          • Article: found

          Cardiac Involvement in Primary Myopathies

          Simultaneous or temporarily staggered affection of both the skeletal as well as the cardiac muscle (cardiac involvement, CI) is a frequent finding in primary myopathies (MPs). CI leads to impulse generation defects, impulse conduction defects, thickened myocardium, left ventriculalr hypertrabeculation, dilatation of the cardiac cavities, secondary valve insufficiency, reduction of coronary vasodilative reserve, intracardial thrombus formation, and heart failure with systolic and diastolic dysfunction. CI has been found in Duchenne muscular dystrophy (MD), Becker MD, Emery-Dreifuss MD, facioscapulohumeral MD, sarcoglycanopathies, myotubular congenital MD, myotonic dystrophies type 1 and 2, proximal myotonic myopathy, myoadenylate deaminase deficiency, glycogenosis type II, III, IV, VII and IX, carnitine deficiency, mitochondriopathy, desmin MP, nemaline MP, central core disease, multicore MP, congenital fiber-type disproportion MP, Barth syndrome, McLeod syndrome and Bethlem MP. Patients with any of the above-mentioned myopathies should be cardiologically investigated as soon as their diagnosis is established, since sufficient cardiac therapy improves CI in MPs and since management of these patients is influenced by the degree of CI.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement.

            Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder with an incidence of 3 to 10 cases per million. The only type of cardiac involvement ascribed to this neuromuscular disorder is a unique form of heart disease--permanent atrial paralysis. However, reported cases of facioscapulohumeral muscular dystrophy probably represented instead what is now recognized as phenotypically similar Emery-Dreifuss dystrophy. Cardiac involvement, therefore, has not been convincingly reported in facioscapulohumeral muscular dystrophy, but because of the clinical similarity of that disorder to Emery-Dreifuss dystrophy and its genetic variants, a prospective investigation of the electrophysiologic properties of the atria and atrioventricular (AV) node and infranodal conduction was undertaken in 30 rigorously documented cases of facioscapulohumeral muscular dystrophy. All patients had a 12 lead surface electrocardiogram (ECG), 22 had a 24 h ambulatory ECG, 15 patients had two-dimensional echocardiographic/Doppler studies and 10 patients underwent 12 intracardiac electrophysiologic investigations. Left atrial, right atrial or biatrial P wave abnormalities were present in 60% of the surface ECGs. Evidence of abnormal AV node or infranodal conduction was present on intracardiac electrophysiologic study or surface ECG in 27% of patients. Atrial flutter or fibrillation was induced by single atrial extra stimuli in 10 of the 12 intracardiac electrophysiologic studies. Sinus node function was abnormal in three patients. This investigation provides the first secure evidence of cardiac involvement in facioscapulohumeral muscular dystrophy. The involvement is represented by relatively high susceptibility to induced atrial flutter or fibrillation during electrophysiologic study, together with less frequent evidence of abnormal sinus node function and abnormal AV node or infranodal conduction.(ABSTRACT TRUNCATED AT 250 WORDS)
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              Facioscapulohumeral Muscular Dystrophy

                Bookmark

                Author and article information

                Journal
                CRD
                Cardiology
                10.1159/issn.0008-6312
                Cardiology
                S. Karger AG
                0008-6312
                1421-9751
                2005
                February 2005
                07 February 2005
                : 103
                : 2
                : 81-83
                Affiliations
                aNeurological Department, and b2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria; cInstitute of Human Genetics, University of Würzburg, Würzburg, Germany
                Article
                82113 Cardiology 2005;103:81–83
                10.1159/000082113
                15550754
                © 2005 S. Karger AG, Basel

                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.

                Page count
                Figures: 1, References: 18, Pages: 3
                Categories
                Case Report

                Comments

                Comment on this article