Download PDF
CC BY-NC-ND 4.0 · Indian J Radiol Imaging
DOI: 10.1055/s-0044-1800882
Case Report

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy

Basavaraj Biradar
1   Department of Imaging Sciences and Interventional Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, India
,
Jineesh Valakkada 
2   Department of Gastrointestinal Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, India
,
Anoop Ayyappan 
1   Department of Imaging Sciences and Interventional Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, India
,
Ajay Alex 
1   Department of Imaging Sciences and Interventional Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, India
› Author Affiliations Funding None.
› Further Information
Also available at
   Permissions and Reprints

Abstract

Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited syndrome that affects muscles, joints, and the heart. The classic clinical triad includes early joint contractures, slowly progressive muscle weakness, and cardiac abnormalities. The common cardiac manifestations include conduction disturbances, systolic dysfunction, and dilated cardiomyopathy and may be associated with left ventricular noncompaction with an increased risk of thromboembolic events. Conduction disturbances include atrial arrhythmias, atrial standstill, complete heart block, or ventricular tachyarrhythmia. Cardiac magnetic resonance imaging (CMR) can help in the diagnosis of this condition by identifying chamber dilatation, systolic dysfunction, and late gadolinium enhancement of the atrium. Additional MRI finding of paraspinal muscle atrophy, an important finding in this muscular dystrophy, helped in reaching a confident imaging diagnosis. Our case in this article highlights the clinical and CMR findings of this rare condition.

Keywords

cardiac MR - atrial dilatation - stroke - muscular atrophy


Publication History

Article published online:
17 December 2024

© 2024. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 

  • References

  • 1 Pillers DAM, Von Bergen NH. Emery-Dreifuss muscular dystrophy: a test case for precision medicine. Appl Clin Genet 2016; 9: 27-32
    CrossrefPubMedSearch in Google Scholar
  • 2 Mah JK, Korngut L, Fiest KM. et al. A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci 2016; 43 (01) 163-177
    CrossrefPubMedSearch in Google Scholar
  • 3 Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol 2013; 113: 1367-1376
    CrossrefPubMedSearch in Google Scholar
  • 4 van Berlo JH, de Voogt WG, van der Kooi AJ. et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med (Berl) 2005; 83 (01) 79-83
    CrossrefPubMedSearch in Google Scholar
  • 5 Fan Y, Tan D, Song D. et al. Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients. J Med Genet 2021; 58 (05) 326-333
    CrossrefPubMedSearch in Google Scholar
  • 6 Boriani G, Gallina M, Merlini L. et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003; 34 (04) 901-908
    CrossrefPubMedSearch in Google Scholar
  • 7 Wang C, Hata Y, Hirono K. et al; for LVNC Study Collaborators. A wide and specific spectrum of genetic variants and genotype-phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction. J Am Heart Assoc 2017; 6 (09) e006210
    CrossrefPubMedSearch in Google Scholar
  • 8 Bécane HM, Bonne G, Varnous S. et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000; 23 (11, Pt 1): 1661-1666
    CrossrefPubMedSearch in Google Scholar
  • 9 Ishikawa T, Mishima H, Barc J. et al. Cardiac emerinopathy: a nonsyndromic nuclear envelopathy with increased risk of thromboembolic stroke due to progressive atrial standstill and left ventricular noncompaction. Circ Arrhythm Electrophysiol 2020; 13 (10) e008712
    CrossrefPubMedSearch in Google Scholar
  • 10 Astejada MN, Goto K, Nagano A. et al. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol 2007; 26 (03) 159-164
    PubMedSearch in Google Scholar
  • 11 Díaz-Manera J, Alejaldre A, González L. et al. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscul Disord 2016; 26 (01) 33-40
    CrossrefPubMedSearch in Google Scholar
  • 12 Holmström M, Kivistö S, Heliö T. et al. Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy. J Cardiovasc Magn Reson 2011; 13 (01) 30
    CrossrefPubMedSearch in Google Scholar
  • 13 Bonne G, Yaou RB, Béroud C. et al. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003; 13 (06) 508-515
    CrossrefPubMedSearch in Google Scholar
  • 14 Fishbein MC, Siegel RJ, Thompson CE, Hopkins LC. Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 1993; 119 (09) 900-905
    CrossrefPubMedSearch in Google Scholar