JACC. Case reports · 2026
Filamin C Genetic Cardiomyopathy Presenting as Acute Myocardial Injury.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Alexandrino Francisco B, Curtis Brett, Nguyen Christopher, Kwon Deborah, Ramchand Jay, Tang W H Wilson
Аннотация
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."
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."