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Published on: August 8, 2022
Role of genetics in inflammatory cardiomyopathy
Paul J Scheel1, Iside Cartella2, Brittney Murray1
1Division of Cardiology, Department of Medicine, Johns Hopkins University, USA.
Insights
Genetic variants may underlie inflammatory cardiomyopathy, challenging traditional views. Recognizing this genetic link impacts patient management, family screening, and sudden cardiac death prevention strategies.
Area of Science:
- Cardiology
- Genetics
- Immunology
Background:
- Traditional views separate inflammatory and genetic cardiomyopathies.
- Growing evidence suggests genetic variants contribute to inflammatory cardiomyopathy, even with identified triggers.
- Inflammation is increasingly recognized in genetic cardiomyopathies, particularly arrhythmogenic types.
Purpose of the Study:
- To highlight the overlap between genetic and inflammatory cardiomyopathy.
- To emphasize the diagnostic and management implications of identifying genetic contributions to inflammatory heart conditions.
- To underscore the importance of considering genetic factors in cardiomyopathies presenting with inflammatory features.
Main Methods:
- Review of current literature on cardiomyopathy etiologies.
- Analysis of clinical presentations and diagnostic challenges in inflammatory and genetic cardiomyopathies.
- Discussion of the impact of genetic testing on reclassification and management.
Main Results:
- A significant proportion of patients with presumed inflammatory cardiomyopathy may have an underlying genetic variant.
- Genetic testing can reclassify conditions like cardiac sarcoidosis, altering therapeutic approaches.
- Inflammatory pathways are implicated in the pathogenesis of various genetic cardiomyopathies.
Conclusions:
- Recognizing the genetic basis of inflammatory cardiomyopathy is crucial for accurate diagnosis and personalized treatment.
- Understanding this interplay influences decisions regarding immunosuppression, sudden cardiac death risk, and cascade genetic screening for families.
- Further research is needed to elucidate the mechanisms linking inflammation and genetic cardiomyopathy.
Abstract:
Traditional cardiomyopathy paradigms segregate inflammatory etiologies from those caused by genetic variants. An identified or presumed trigger is implicated in acute myocarditis or chronic inflammatory cardiomyopathy but growing evidence suggests a significant proportion of patients have an underlying cardiomyopathy-associated genetic variant often even when a clear inflammatory trigger is identified. Recognizing a possible genetic contribution to inflammatory cardiomyopathy may have major downstream implications for both the patient and family. The presenting features of myocarditis (i.e. chest pain, arrhythmia, and/or heart failure) may provide insight into diagnostic considerations. One example is isolated cardiac sarcoidosis, a distinct inflammatory cardiomyopathy that carries diagnostic challenges and clinical overlap; genetic testing has increasingly reclassified cases of isolated cardiac sarcoidosis as genetic cardiomyopathy, notably altering management. On the other side, inflammatory presentations of genetic cardiomyopathies are likewise underappreciated and a growing area of investigation. Inflammation plays an important role in the pathogenesis of several familial cardiomyopathies, especially arrhythmogenic phenotypes. Given these clinical scenarios, and the implications on clinical decision making such as initiation of immunosuppression, sudden cardiac death prevention, and family screening, it is important to recognize when genetics may be playing a role.
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