Improved diagnosis of idiopathic giant cell myocarditis and cardiac sarcoidosis by myocardial gene expression profiling

Laßner, Dirk; Kühl, Uwe; Siegismund, Christine S.; Rohde, Maria; Elezkurtaj, Sefer; Escher, Felicitas; Tschöpe, Carsten; Groß, Ulrich; Poller, Wolfgang; Schultheiss, Heinz‐Peter

doi:10.1093/eurheartj/ehu101

Cited by 59 publications

(44 citation statements)

References 24 publications

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“…5 At least 1 study has found that GCM and CS have distinct gene expression profiles that can be used to distinguish between them; genetic profiling may represent a promising future ancillary testing option. 28 Fulminant lymphocytic myocarditis can present similarly to GCM with new-onset heart failure unresponsive to standard therapies such as diuretics, b-adrenergic blocking agents, and angiotensin-converting enzyme inhibitors. 29 Histologically, both fulminant lymphocytic myocarditis and GCM show a myocardial lymphocytic infiltrate with associated myocyte necrosis.…”

Section: Differential Diagnosismentioning

confidence: 99%

Giant Cell Myocarditis: A Brief Review

Brooks²

2016

Archives of Pathology &Amp; Laboratory Medicine

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Giant cell myocarditis (GCM) is a rapidly progressive and frequently fatal disease that mainly affects young to middle-aged previously healthy individuals. Early diagnosis is critical, as recent studies have shown that rapidly instituted cyclosporine-based immunosuppression can reduce inflammation and improve transplant-free survival. Before the 1980s, GCM was mainly a diagnosis made at autopsy. Owing to advancements in diagnostic and therapeutic options, it is now increasingly diagnosed on the basis of endomyocardial biopsies, explanted hearts, or apical wedge sections removed at the time of ventricular assist device placement. Histologic examination remains the gold standard for diagnosis; however, there are many possible etiologies for cardiac giant cells. Having a working knowledge of the clinicopathologic features that distinguish GCM from other giant cell–containing lesions is essential, since such lesions can have widely divergent management and outcome.

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Section: Differential Diagnosismentioning

confidence: 99%

Giant Cell Myocarditis: A Brief Review

Brooks²

2016

Archives of Pathology &Amp; Laboratory Medicine

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“…In the case of GCM there is no distinctive clinical presentation, but, as for other forms of myocarditis, GCM can present as acute or chronic heart failure, arrhythmia, myocardial necrosis with normal coronary arteries, or a life-threatening condition (cardiac arrest or carcinogenic shock). Some clinical hints are the severity of cardiac symptoms, the lack of response to standard cardiological care and the association in the patient or in family members with other extra-cardiac autoimmune conditions, such as autoimmune thyroid disease, ulcerative colitis, etc [10][11][12]. It is reported that GCM has a relationship with an auto immune diseases such as Sjogren's syndrome, giant cell arteritis, thymoma, myasthenia gravis, chronic active hepatitis, Hashiomoto's thyroiditis, ulcerative colitis and Crohn's disease [2,10,11].…”

Section: Discussionmentioning

confidence: 99%

Cause of Sudden Death; Giant Cell Myocarditis

Kaya

Çekin

Yıldırım

et al. 2018

ICPJL

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Sudden cardiac deaths due to giant cell myocarditis (GCM) are uncommon. Giant cell myocarditis may cause serious heart failure, complete heart block, malignant ventricular arrhythmias. Our case was 34 years old male patient who had sudden loss of consciousness after discussing with another driver in traffic and he died on his way to hospital. The autopsy was performed and in cardiac pathologic examination; chronic inflammatory cells and multinucleated giant cells were observed between myocardial fibers and this finding was found to be consistent with giant cell myocarditis. Giant cell myocarditis is usually seen in young and healthy people. Most of the cases can be diagnosed histologically. The purpose of this study is to aware the forensic experts to evaluate a cardiac case in details and properly.

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“…This allows the identification of specific disease situations by analyzing of neighbouring biopsies [75] [76]. Diagnosis of complex diseases by only one parameter is quite difficult hence current diagnostic biomarker panels are consisting of only few deregulated genes.…”

Section: Biomarker Based Diagnostics For Personalized Medicinementioning

confidence: 99%

“…The identification and differentiation of IGCM and CS, two fatal myocardial diseases, is rather difficult and based on differential patterns of inflammatory cell infiltration and non-caseating granuloma. Since both multinuclear giant cells and granuloma are easily missed by conventional histological evaluation, an improved method to reliably identify those entities independent from histology is desirable [75] [76]. In this respect, the application of diagnostic gene expression profiling can predict multinucleated giant cells without their direct histological proof and thus differentiate IGCM from CS, active myocarditis or an inflammation-free myocardium [75].…”

Section: Biomarker Based Diagnostics For Personalized Medicinementioning

confidence: 99%

“…Since both multinuclear giant cells and granuloma are easily missed by conventional histological evaluation, an improved method to reliably identify those entities independent from histology is desirable [75] [76]. In this respect, the application of diagnostic gene expression profiling can predict multinucleated giant cells without their direct histological proof and thus differentiate IGCM from CS, active myocarditis or an inflammation-free myocardium [75]. According to the exact classification a personalized therapy can be administered ( Table 1).…”

Section: Biomarker Based Diagnostics For Personalized Medicinementioning

confidence: 99%

See 1 more Smart Citation

Myocarditis—Personalized Medicine by Expanded Endomyocardial Biopsy Diagnostics

Laßner¹,

Rohde²,

Siegismund³

et al. 2014

WJCD

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Myocarditis and dilated cardiomyopathy (DCM) are acute or chronic disorders of myocardium. The gold standard for final confirmation of causative reasons of these heart muscle diseases is the endomyocardial biopsy (EMB) analysis. Due to focal pathology, diagnostics are failing if the EMB does not contain the area of interest. Personalized medicine comprises the genetic information together with the phenotypic and environmental factors to yield a tailored healthcare for each individual and removes the limitations of the "one-size-fits-all" therapy approach. This provides the opportunity to translate therapies from bench to bedside, to diagnose and predict disease, and to improve patient-tailored treatments based on the unique signatures of a patient's disease. Furthermore, novel treatment schedules can be identified which have eventually the chance to enhance long-term survivals. Global biomarkers such as specific gene expression signatures or miRNA profiles not only have the potential to reduce this problem but also add valuable information for individualized therapy decisions. In future, multiplex approaches allowing rapid and absolutely reliable identification of inflammatory or virally-induced myocardial diseases will replace singleplex methods such as direct detection of viral genomes in one single biopsy. Gene or miRNA profiles are upcoming diagnostic biomarkers for cardiomyopathies which are not only detectable in tissue samples but in body fluids as well. Consequently, a systemic diagnostic approach by determination of distinct expression pattern in e.g., peripheral blood samples will support the characterization of distinct cardiomyopathies by means of non-invasive methods.

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Improved diagnosis of idiopathic giant cell myocarditis and cardiac sarcoidosis by myocardial gene expression profiling

Cited by 59 publications

References 24 publications

Giant Cell Myocarditis: A Brief Review

Giant Cell Myocarditis: A Brief Review

Cause of Sudden Death; Giant Cell Myocarditis

Myocarditis—Personalized Medicine by Expanded Endomyocardial Biopsy Diagnostics

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