Journey Exploring the Evasive Cause of Cardiomyopathy in a 27 Year Old

Abstract

Introduction The differential for cardiomyopathy in a young patient is challenging. While there has been published research into genetic cardiomyopathy and lymphocytic myocarditis, there is still much to be studied. Case Report A 27 year old male with significant family history of heart disease and no drug/steroid use, initially presented following cardiac arrest while exercising. Patient was found to be apneic and pulseless upon arrival of EMS. ACLS was performed. In the ED, he was found to have an EF of 10% and global hypokinesis. Lab work showed an elevated troponin which peaked at 20. Angiogram showed no significant obstructions. Patient developed evidence of cardiogenic shock, ultimately requiring pressors, IABP, and VA ECMO. Genetic testing was obtained which showed variance in FLNC and RBM40. Cardiac MRI demonstrated no late gadolinium enhancement. Right heart catherization and myocardial biopsy demonstrated evidence of high output heart failure and borderline lymphocytic myocarditis. Repeat ECHO demonstrated an improved ejection fraction of 43%. Patient was later decannulated and IABP was removed. Patient ultimately underwent AICD placement, and later interrogation noted episodes of VTach of unclear etiology. Patient was optimized on beta blockers, ARNI, and antiarrhythmics. Ejection fraction one year after admission remained 43%. Summary This case highlights the differential for cardiomyopathy in a 27 year old. While the diagnosis at this time is unclear, two main diagnoses become prominent: lymphocytic myocarditis versus underlying genetic disorder. Lymphocytic myocarditis accounts for 54% of all myocarditis, with viral illness the most common identified cause. Workup includes exclusion of other etiologies, as well as endomyocardial biopsy. While the role of medical therapy, such as immunosuppression or antivirals is unclear, the most effective treatment is supportive care. Genetic cardiomyopathies, however are more insidious. While there is still much to know about genetic cardiomyopathies, there have been advances in the recognition of genetic mutations that lead to earlier recognition and treatment. Also, patients with underlying genetic cardiomyopathies can be predisposed to lymphocytic myocarditis. This case is interesting in that it allows us to explore the differential for cardiomyopathy in a young healthy patient, and how the field of cardiomyopathy is evolving.