Filamin C Genetic Cardiomyopathy Presenting as Acute Myocardial Injury
Year: 2026
Type: article
Study design: Case Report
Abstract: BACKGROUND: Acute myocardial injury with a nonischemic imaging pattern presents a diagnostic challenge. CASE SUMMARY: A 46-year-old previously healthy man presented with intermittent chest pain and markedly elevated high-sensitivity troponin. Cardiac magnetic resonance imaging showed extensive ring-like subepicardial late gadolinium enhancement involving 10 left ventricular segments but no myocardial edema. Genetic testing subsequently identified a pathogenic variant in the FLNC gene. Follow-up imaging 4 months later showed persistent fibrosis with preserved ventricular function and no arrhythmias. DISCUSSION: Ring-like late gadolinium enhancement is an uncommon but increasingly recognized imaging phenotype associated with genetic cardiomyopathies, particularly involving desmosomal and nondesmosomal genes such as FLNC. Episodes of acute myocardial injury with chest pain and troponin elevation can mimic myocarditis and may represent inflammatory triggers that unmask latent genetic cardiomyopathy. This case highlights the emerging concept of "imagenetics," in which specific imaging phenotypes guide the identification of underlying genetic disease. TAKE-HOME MESSAGES: This case highlights how transient biomarker elevation can unmask an underlying genetic cardiomyopathy. Ring-like late gadolinium enhancement distribution should prompt genetic evaluation, reflecting the emerging concept of "imagenetics."
Source: JACC Case Reports
Institution: Cleveland Clinic
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $850
OpenAlex ID: W7162199753