LMNA Gene Mutation Presenting with Ventricular Tachycardia in the Absence of Dilated Cardiomyopathy

Binod Poudel; Shreeja Shah; Shristi Khanal; Muhammad A A Cheema; Bikash Basyal

doi:10.55729/2000-9666.1116

LMNA Gene Mutation Presenting with Ventricular Tachycardia in the Absence of Dilated Cardiomyopathy

J Community Hosp Intern Med Perspect. 2022 Nov 7;12(6):108-112. doi: 10.55729/2000-9666.1116. eCollection 2022.

Authors

Binod Poudel¹, Shreeja Shah¹, Shristi Khanal¹, Muhammad A A Cheema², Bikash Basyal¹

Affiliations

¹ Department of Medicine, Abington Jefferson Health, Abington, PA, USA.
² Division of Cardiology, Thomas Jefferson University, Philadelphia, PA, USA.

Abstract

Genetic mutations can present with cardiomyopathies and ventricular arrhythmias in young population in the absence of other cardiac risk factors. LMNA genetic mutation is one of the causes of dilated cardiomyopathy (DCM) which can present with conduction abnormalities and arrhythmias. We present a case of LMNA genetic mutation in an African American male who presented with ventricular tachycardia in the absence of dilated cardiomyopathy initially mimicking cardiac sarcoidosis. Diagnostic challenges included initial impression of cardiac sarcoidosis as suggested by cardiac MRI, but negative tissue pathology on endomyocardial biopsy and negative activity on FDG PET scan. Treatment involved initiation of beta blocker and an implantable cardiac defibrillator placement for secondary prevention.

Keywords: Cardiac sarcoidosis; Dilated cardiomyopathy; Genetic testing; LMNA gene; Nuclear lamins; Ventricular tachycardia.

Publication types

Case Reports