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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
Riddhi Patel Riddhi Patel 1*Raj Patel Raj Patel 2Ekta Patel Ekta Patel 3Mehul Patel Mehul Patel 4
  • 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

The final, formatted version of the article will be published soon.

    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

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