Title: Giant Right Atrium in the Setting of Desmin-Related Restrictive Cardiomyopathy
Abstract: HomeCirculationVol. 113, No. 4Giant Right Atrium in the Setting of Desmin-Related Restrictive Cardiomyopathy Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplemental MaterialFree AccessReview ArticlePDF/EPUBGiant Right Atrium in the Setting of Desmin-Related Restrictive Cardiomyopathy Stefan Hager, Heiko Mahrholdt, Lev G. Goldfarb, Hans H. Goebel and Udo Sechtem Stefan HagerStefan Hager From the Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany (S.H., H.M., U.S.); National Institute of Health, Bethesda, Md (L.G.G.); and Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany (H.H.G.). , Heiko MahrholdtHeiko Mahrholdt From the Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany (S.H., H.M., U.S.); National Institute of Health, Bethesda, Md (L.G.G.); and Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany (H.H.G.). , Lev G. GoldfarbLev G. Goldfarb From the Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany (S.H., H.M., U.S.); National Institute of Health, Bethesda, Md (L.G.G.); and Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany (H.H.G.). , Hans H. GoebelHans H. Goebel From the Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany (S.H., H.M., U.S.); National Institute of Health, Bethesda, Md (L.G.G.); and Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany (H.H.G.). and Udo SechtemUdo Sechtem From the Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany (S.H., H.M., U.S.); National Institute of Health, Bethesda, Md (L.G.G.); and Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany (H.H.G.). Originally published31 Jan 2006https://doi.org/10.1161/CIRCULATIONAHA.105.502575Circulation. 2006;113:e53–e55A 52-year-old man who had just emigrated from Russia presented at another hospital with recent onset of right-sided heart failure. Over the past years, the patient had experienced recurring episodes of atrial fibrillation, which finally persisted. In Russia, the patient had suffered from progressive tetraparesis that had not been investigated further.Transthoracic and transesophageal echocardiography revealed biatrial dilatation, normal ventricular function, paradoxical movement of the interventricular septum, and a loss of A wave by Doppler as a result of atrial fibrillation. However, the pericardium and the extent and detailed morphology of the atria could not be assessed by echocardiography (Figure 1). A fully animated version of Figure 1 can be viewed in the Data Supplement (Movie I and Movie II). The patient was referred to us for cardiovascular magnetic resonance (CMR) to confirm clinically suspected constrictive pericarditis. At the other hospital, skeletal muscle biopsies had been taken for neurological workup of tetraparesis, but the results of the biopsies were pending at the time of the CMR referral. Download figureDownload PowerPointFigure 1. Top, An apical 4-chamber view showing a constrictively configured heart with biatrial dilatation, relatively small ventricles, and good ventricular function. However, the pericardium as the suspected cause of constriction could not be sufficiently visualized. In addition, constrictive pericarditis could not be confirmed or ruled out by echocardiography using parasternal (bottom) or subcostal echo windows.Cardiovascular MRI was performed with a 1.5-T Magnetom Sonata (Siemens Medical Systems). Fast-gradient-echo steady-state free precession cine and single-shot imaging demonstrated a distinctive constrictionlike configuration of the heart with normal-sized ventricles, normal systolic ventricular function, and enlarged atria (Figure 2). A fully animated version of Figure 2 can be viewed in the Data Supplement (Movie III through Movie V). The right atrium measured 112×82×77 mm with an estimated right atrial volume of 463 mL, which is nearly 4 times the end-diastolic volume of each ventricle (left ventricular end-diastolic volume, 113 mL; left ventricular ejection fraction, 61%; right ventricular end-diastolic volume, 139 mL; right ventricular ejection fraction, 52%). The left atrium measured 55×69×54 mm with a left atrial volume of 136 mL. However, CMR revealed no thickening or calcification of the pericardium. Thus, constrictive pericarditis as the cause of heart failure and atrial size (Figure 2) was considered to be unlikely, because constrictive pericarditis without pericardial thickening or calcification is exceedingly rare in patients without previous cardiac surgery, radiation therapy, or myocardial infarction. Download figureDownload PowerPointFigure 2. Fast-gradient-echo steady-state free precession CMR imaging showing typical transversal images from caudal (top) toward cranial (bottom) regions. The transversal images give the best overview of the giant right atrium (*), which measured 112×82×77 mm with an estimated right atrial volume of 463 mL. The pericardium (black arrows) is not thickened or calcified.Consequently, the patient underwent cardiac catheterization and endomyocardial biopsy for workup of restrictive cardiomyopathy. The hemodynamic measurements showed a systolic pressure of 45 mm Hg in the pulmonary artery and near equilibration of end-diastolic pressures in the right atrium (20 mm Hg), right ventricle (20 mm Hg), and pulmonary artery (19 mm Hg), indicating the presence of significant myocardial restriction. Histopathological analysis of myocardial biopsy specimens showed fibrosis in combination with an altered structure of myofibrils but primarily no specific cause of restrictive cardiomyopathy.Meanwhile, the immune histology and electron microscopy of the skeletal muscle biopsies previously taken to evaluate the tetraparesis revealed desmin-associated myopathy (Figure 3, Movie VI, and Movie VII), a very rare condition that is also known to cause severe restrictive cardiomyopathy. Subsequently, the myocardial specimens were sent to the same specialized pathologist, who then confirmed the diagnosis of myocardial desminopathy. In addition, genotyping revealed a previously unknown Glu[E]245Asp[D] missense mutation in the desmin gene of this patient. Download figureDownload PowerPointFigure 3. A, Light microscopic (×80) immunohistopathological desmin staining (brown) in the patient's skeletal muscle. B, Typical desmin-related granulofilamentous material depicted by electron microscopy in the periphery of one of the patient's muscle fibers (×10 000).The online-only Data Supplement is available at http://circ.ahajournals.org/cgi/content/full/113/4/e53/DC1.This work was supported by a grant from the Robert Bosch Foundation (Dr Mahrholdt).DisclosuresNone.FootnotesCorrespondence to Udo Sechtem, MD, Department of Cardiology, Robert-Bosch-Medical Center, Auerbachstrasse 110, 70376 Stuttgart, Germany. E-mail [email protected] eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetailsCited By Kumar P, Paramasivam G, Prabhu M, Devasia T and Rajasekhar M (2023) A novel FLNC variation associated with restrictive cardiomyopathy with an unusually long clinical course — A case report, Gene Reports, 10.1016/j.genrep.2023.101769, 31, (101769), Online publication date: 1-Jun-2023. Turillazzi E, Santurro A, Ricci P, Scopetti M and Fineschi V (2022) Natural Causes of Sudden Death Handbook of Forensic Medicine, 10.1002/9781119648628.ch34, (801-844), Online publication date: 27-Jun-2022. Brodehl A and Gerull B (2022) Genetic Insights into Primary Restrictive Cardiomyopathy, Journal of Clinical Medicine, 10.3390/jcm11082094, 11:8, (2094) Arbustini E, Di Toro A, Giuliani L, Favalli V, Narula N and Grasso M (2018) Cardiac Phenotypes in Hereditary Muscle Disorders, Journal of the American College of Cardiology, 10.1016/j.jacc.2018.08.2182, 72:20, (2485-2506), Online publication date: 1-Nov-2018. Brodehl A, Gaertner‐Rommel A, Klauke B, Grewe S, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L and Milting H (2017) The novel αB‐crystallin ( CRYAB ) mutation p.D109G causes restrictive cardiomyopathy , Human Mutation, 10.1002/humu.23248, 38:8, (947-952), Online publication date: 1-Aug-2017. Azzimato V, Gennebäck N, Tabish A, Buyandelger B and Knöll R (2016) Desmin, desminopathy and the complexity of genetics, Journal of Molecular and Cellular Cardiology, 10.1016/j.yjmcc.2016.01.017, 92, (93-95), Online publication date: 1-Mar-2016. Brodehl A, Ferrier R, Hamilton S, Greenway S, Brundler M, Yu W, Gibson W, McKinnon M, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J and Gerull B (2016) Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy , Human Mutation, 10.1002/humu.22942, 37:3, (269-279), Online publication date: 1-Mar-2016. Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke W, Gerull B, Vorgert M, Anselmetti D and Milting H (2016) Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect, Journal of Molecular and Cellular Cardiology, 10.1016/j.yjmcc.2015.12.015, 91, (207-214), Online publication date: 1-Feb-2016. Osada H, Nakajima H, Meshii K and Ohnaka M (2014) Right Atrial Volume Reduction for Severely Impaired Pulmonary Function, Journal of Cardiac Surgery, 10.1111/jocs.12397, 29:6, (787-789), Online publication date: 1-Nov-2014. Turillazzi E, Bello S and Fineschi V (2014) Natural Causes of Sudden Death Handbook of Forensic Medicine, 10.1002/9781118570654.ch33, (597-629) Clemen C, Herrmann H, Strelkov S and Schröder R (2012) Desminopathies: pathology and mechanisms, Acta Neuropathologica, 10.1007/s00401-012-1057-6, 125:1, (47-75), Online publication date: 1-Jan-2013. van Spaendonck-Zwarts K, van Hessem L, Jongbloed J, de Walle H, Capetanaki Y, van der Kooi A, van Langen I, van den Berg M and van Tintelen J (2010) Desmin-related myopathy, Clinical Genetics, 10.1111/j.1399-0004.2010.01512.x, 80:4, (354-366), Online publication date: 1-Oct-2011. Anzouan-Kacou J, Konin C, Coulibaly I, N'guetta R, Adoubi A, Soya E and Boka B (2011) Unusual Giant Right Atrium in Rheumatic Mitral Stenosis and Tricuspid Insufficiency, Case Reports in Cardiology, 10.1155/2011/762873, 2011, (1-4), . DeBoer M (2009) Animal models of anorexia and cachexia, Expert Opinion on Drug Discovery, 10.1517/17460440903300842, 4:11, (1145-1155), Online publication date: 1-Nov-2009. Ariyarajah V, Soni A and Morris A (2008) Giant Right Atrium in an Adult, Echocardiography, 10.1111/j.1540-8175.2008.00742.x, 25:10, (1121-1123) Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter M, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel H, Lochmüller H, Wintersperger B and Schröder R (2008) Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies, Neuromuscular Disorders, 10.1016/j.nmd.2008.03.012, 18:6, (475-482), Online publication date: 1-Jun-2008. Jeserich M, Kirchberger J and Geibel A (2007) Idiopathic dilatation of the right atrium in a female adult, Clinical Research in Cardiology, 10.1007/s00392-007-0608-7, 97:2, (131-134), Online publication date: 1-Feb-2008. Bergman J, Veenstra-Knol H, van Essen A, van Ravenswaaij C, den Dunnen W, van den Wijngaard A and Peter van Tintelen J (2007) Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene, European Journal of Medical Genetics, 10.1016/j.ejmg.2007.06.003, 50:5, (355-366), Online publication date: 1-Sep-2007. January 31, 2006Vol 113, Issue 4 Advertisement Article InformationMetrics https://doi.org/10.1161/CIRCULATIONAHA.105.502575PMID: 16449718 Originally publishedJanuary 31, 2006 PDF download Advertisement SubjectsCardiomyopathyComputerized Tomography (CT)