An unusual case of severe myocarditis in a genetic cardiomyopathy: a case report
| Autor: | Isabel Deisenhofer, Karin Klingel, Gabriele Hessling, Miruna-Andreea Popa, Martin Hadamitzky |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Myocarditis Dilated cardiomyopathy Cardiomyopathy Case Reports 030204 cardiovascular system & hematology Inherited cardiomyopathies 03 medical and health sciences 0302 clinical medicine Cardiac magnetic resonance imaging Internal medicine Case report medicine AcademicSubjects/MED00200 Danon disease 030212 general & internal medicine Ejection fraction medicine.diagnostic_test business.industry medicine.disease Lymphocytic myocarditis Heart failure Cardiology Prednisolone Endomyocardial biopsy Cardiology and Cardiovascular Medicine business Arrhythmias / Electrophysiology medicine.drug |
| Zdroj: | European Heart Journal: Case Reports |
| ISSN: | 2514-2119 |
| DOI: | 10.1093/ehjcr/ytaa124 |
| Popis: | Background Myocarditis is an inflammatory disease of the myocardium caused by infectious pathogens, immune-mediated conditions, or toxic agents. This report explores a rare case of severe myocarditis occurring in an inherited cardiomyopathy. Case summary A 24-year-old female patient presented with progressing dyspnoea and chest discomfort. Echocardiography and cardiac magnetic resonance imaging revealed dilated cardiomyopathy (DCM) with severe biventricular dysfunction [left ventricle ejection fraction (LV-EF) 10%]. Myocardial inflammation was suspected due to extensive subendocardial to transmural late gadolinium enhancement. Endomyocardial biopsy (EMB) showed severe chronic lymphocytic myocarditis. As inflammatory DCM was assumed, immunosuppressive therapy with prednisolone was initiated in addition to standard heart failure therapy. Endomyocardial biopsy after 3 months showed resolving inflammation. However, a marked architectural disarray observed in all biopsies raised the suspicion of an inherited cardiomyopathy. Genetic testing revealed a de novo mutation with effect on splicing of lysosome-associated membrane protein 2, as found in Danon disease. Periodic acid–Schiff (PAS) staining confirmed a glycogen storage disorder. Immunosuppressive therapy was intensified due to reactivation of myocardial inflammation and led to improvement of LV-EF and to significant symptom relief over a 16-month follow-up period. Discussion This is the first report of Danon disease initially presenting as a severe myocarditis. It illustrates the clinical value of EMB for diagnosis and immunosuppressive therapy monitoring in chronic myocarditis. Increasing evidence suggests that myocardial inflammation may modify disease progression and prognosis in inherited cardiomyopathies. The causal role of cardiac protein mutations in the pathophysiology of myocarditis remains to be determined. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|