'The imitation game': a heart failure case report with a great diagnostic twist.
Ayisha Mehtab Khan-KheilPolyvios DemetriadesRichard Paul SteedsWilliam E MoodyPublished in: European heart journal. Case reports (2024)
We describe the case of a patient presenting with clinical and imaging features suggestive for cardiac sarcoidosis, however genetic testing established a diagnosis of DSG-2 associated AVC. DSG-2 mutations in AVC are associated with frequent LV involvement and heart failure. Active inflammation has been observed in other cardiomyopathies, specifically in desmoplakin cardiomyopathy which has a similar clinical course to DSG-2. To our knowledge, this is the first case of DSG-2 cardiomyopathy presenting in this manner. We encourage clinicians to have a high index of suspicion of inflammatory cardiomyopathies as a differential to myocarditis and cardiac sarcoidosis, when patients present with evidence of decompensated heart failure, arrhythmias, and active myocardial inflammation.
Keyphrases
- heart failure
- case report
- left ventricular
- oxidative stress
- cardiac resynchronization therapy
- acute heart failure
- end stage renal disease
- ejection fraction
- healthcare
- atrial fibrillation
- high resolution
- palliative care
- epithelial mesenchymal transition
- mass spectrometry
- signaling pathway
- hepatitis b virus
- photodynamic therapy
- fluorescence imaging