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.
Poudel, Binod; Shah, Shreeja; Khanal, Shristi; Cheema, Muhammad Arslan Asghar; and Basyal, Bikash
"LMNA gene mutation presenting with ventricular tachycardia in the absence of dilated cardiomyopathy,"
Journal of Community Hospital Internal Medicine Perspectives: Vol. 12:
6, Article 18.
Available at: https://scholarlycommons.gbmc.org/jchimp/vol12/iss6/18