The final, formatted version of the article will be published soon.
CASE REPORT article
Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 11 - 2024 |
doi: 10.3389/fcvm.2024.1422151
Dilated Cardiomyopathy due to Novel LMNA mutation: A Case Report
Provisionally accepted- 1 Lake Erie College of Osteopathic Medicine, Erie, United States
- 2 Lake Erie College of Osteopathic Medicine, Greensburg, United States
- 3 St. Bonaventure University, Allegany, New York, United States
- 4 Premier Medical Group, Newburgh, United States
A case of a 44-year-old man presenting with a family history of LMNA mutation and cardiac symptoms (dizziness, weakness, palpitations, and shortness of breath) congruent with dilated cardiomyopathy. Genetic testing revealed a novel likely pathogenic mutation of the LMNA gene (c.513G>A, exon 2) not previously associated with dilated cardiomyopathy, and the patient underwent guideline direct treatment for dilated cardiomyopathy. In patients with LMNA mutations, VTA risk should be calculated to determine the need for prophylactic ICD placement.
Keywords: LMNA mutation, dilated cardiomyopathy, ICD, Sudden cardiac death, case report Abbreviations: atrial fibrillation (Afib), Left ventricular ejection fraction (LVEF), implantable cardioverter defibrillator (ICD), Ejection fraction (EF)
Received: 23 Apr 2024; Accepted: 17 Sep 2024.
Copyright: © 2024 Patel, Patel, Patel and Patel. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Riddhi Patel, Lake Erie College of Osteopathic Medicine, Erie, United States
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.