Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy
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 disturb...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2025-07-01
|
| Series: | Indian Journal of Radiology and Imaging |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1800882 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850219271955677184 |
|---|---|
| author | Basavaraj Biradar Jineesh Valakkada Anoop Ayyappan Ajay Alex |
| author_facet | Basavaraj Biradar Jineesh Valakkada Anoop Ayyappan Ajay Alex |
| author_sort | Basavaraj Biradar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-af355118e2054a218f30e519f525966d |
| institution | OA Journals |
| issn | 0971-3026 1998-3808 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Radiology and Imaging |
| spelling | doaj-art-af355118e2054a218f30e519f525966d2025-08-20T02:07:26ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Radiology and Imaging0971-30261998-38082025-07-01350346346510.1055/s-0044-1800882Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular DystrophyBasavaraj Biradar0Jineesh Valakkada1https://orcid.org/0000-0003-3382-6063Anoop Ayyappan2https://orcid.org/0000-0001-5552-810XAjay Alex3https://orcid.org/0000-0002-2462-5449Department of Imaging Sciences and Interventional Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, IndiaDepartment of Gastrointestinal Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, IndiaDepartment of Imaging Sciences and Interventional Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, IndiaDepartment of Imaging Sciences and Interventional Radiology, Sree Chitra Institute of Medical Sciences, Trivandrum, Kerala, IndiaEmery–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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1800882cardiac MRatrial dilatationstrokemuscular atrophy |
| spellingShingle | Basavaraj Biradar Jineesh Valakkada Anoop Ayyappan Ajay Alex Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy Indian Journal of Radiology and Imaging cardiac MR atrial dilatation stroke muscular atrophy |
| title | Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy |
| title_full | Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy |
| title_fullStr | Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy |
| title_full_unstemmed | Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy |
| title_short | Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy |
| title_sort | isolated right atrial enhancement with atrial standstill an uncommon presentation of emery dreifuss muscular dystrophy |
| topic | cardiac MR atrial dilatation stroke muscular atrophy |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1800882 |
| work_keys_str_mv | AT basavarajbiradar isolatedrightatrialenhancementwithatrialstandstillanuncommonpresentationofemerydreifussmusculardystrophy AT jineeshvalakkada isolatedrightatrialenhancementwithatrialstandstillanuncommonpresentationofemerydreifussmusculardystrophy AT anoopayyappan isolatedrightatrialenhancementwithatrialstandstillanuncommonpresentationofemerydreifussmusculardystrophy AT ajayalex isolatedrightatrialenhancementwithatrialstandstillanuncommonpresentationofemerydreifussmusculardystrophy |