JACC. Case reports · 2026
Recurrent Nonischemic Left Ventricular Aneurysms: A Cardiac MRI-Driven Diagnosis in a DES Variant Carrier.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Garcia Nathalia Prata, Forti Diego, Tassine Penatti Leticia Araujo, Moreira Henrique Turin, Maciel Benedito Carlos, Schmidt André, Volpe Gustavo Jardim
Аннотация
BACKGROUND: Cardiac magnetic resonance (CMR) is the gold-standard technique for characterizing nonischemic structural cardiomyopathies, offering tissue characterization and precise localization of myocardial injury.
CASE SUMMARY: A 24-year-old man presented with recurrent chest discomfort and tachyarrhythmias. Initial CMR revealed an apical left ventricular aneurysm with imaging features consistent with a true aneurysm and normal coronary arteries, successfully treated surgically. Five years later, recurrent ventricular tachycardia prompted re-evaluation; CMR identified a new inferolateral basal aneurysm in a region previously normal on postoperative imaging. Coronary computed tomography angiography again showed normal epicardial coronary arteries. Surgical patch repair and implantable cardioverter-defibrillator placement were performed. Genetic testing revealed a pathogenic desmin (DES) c.785A>T (p.Glu262Val) variant and additional variant of unknown significance in VCL and CDH2.
DISCUSSION: The identification of a pathogenic DES variant suggests a potential underlying susceptibility to structural remodeling, although causality cannot be confirmed.
TAKE-HOME MESSAGES: CMR was crucial in identifying sequential, anatomically distinct left ventricular aneurysms. The combination of recurrent nonischemic aneurysms and a pathogenic DES variant suggests a possible cytoskeletal genetic cardiomyopathy with arrhythmic risk.
CASE SUMMARY: A 24-year-old man presented with recurrent chest discomfort and tachyarrhythmias. Initial CMR revealed an apical left ventricular aneurysm with imaging features consistent with a true aneurysm and normal coronary arteries, successfully treated surgically. Five years later, recurrent ventricular tachycardia prompted re-evaluation; CMR identified a new inferolateral basal aneurysm in a region previously normal on postoperative imaging. Coronary computed tomography angiography again showed normal epicardial coronary arteries. Surgical patch repair and implantable cardioverter-defibrillator placement were performed. Genetic testing revealed a pathogenic desmin (DES) c.785A>T (p.Glu262Val) variant and additional variant of unknown significance in VCL and CDH2.
DISCUSSION: The identification of a pathogenic DES variant suggests a potential underlying susceptibility to structural remodeling, although causality cannot be confirmed.
TAKE-HOME MESSAGES: CMR was crucial in identifying sequential, anatomically distinct left ventricular aneurysms. The combination of recurrent nonischemic aneurysms and a pathogenic DES variant suggests a possible cytoskeletal genetic cardiomyopathy with arrhythmic risk.