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The MOGE(S) classification of cardiomyopathy for clinicians
Eloisa Arbustini1, Navneet Narula2, Luigi Tavazzi3
1Center for Inherited Cardiovascular Diseases, IRCCS Foundation Policlinico San Matteo, Pavia, Italy.
Insights
Most cardiomyopathies are genetic, often inherited in families. A new MOGE(S) system classifies these heart muscle diseases by morphology, organ involvement, genetics, etiology, and function, aiding diagnosis and research.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Cardiomyopathies are frequently familial, with autosomal dominant inheritance being most common.
- Current classifications based on morphofunctional phenotypes have limitations in genetic correlation, risk stratification, and pre-clinical diagnosis.
- Increasing genetic testing necessitates a comprehensive nosology for accurate cardiomyopathy description.
Purpose of the Study:
- To introduce and describe the MOGE(S) nosology system for classifying cardiomyopathies.
- To provide a standardized framework that integrates morphofunctional, organ involvement, genetic, etiological, and functional aspects of cardiomyopathies.
- To facilitate accurate description and diagnosis of cardiomyopathies in patients and families undergoing genetic testing.
Main Methods:
- The MOGE(S) system categorizes cardiomyopathies based on Morphology (M), Organ(s) involvement (O), Genetic inheritance pattern (G), Etiology (E), and functional Status (S).
- Functional status (S) incorporates American College of Cardiology/American Heart Association staging and New York Heart Association functional classification.
- A web-assisted application supports the MOGE(S) nomenclature for clinical and research use.
Main Results:
- The MOGE(S) system offers a comprehensive approach to cardiomyopathy classification, encompassing genetic and phenotypic data.
- It allows for detailed description of cardiomyopathy in both symptomatic and asymptomatic individuals, including family members.
- The system facilitates grouping cardiomyopathies by etiology, describing complex genetics, and building collaborative registries.
Conclusions:
- The MOGE(S) nosology provides a unified system for describing cardiomyopathies, integrating diverse clinical and genetic information.
- This comprehensive classification aids in understanding disease heterogeneity, improving risk assessment, and enabling precise diagnoses.
- The MOGE(S) system is expected to advance research and clinical management of cardiomyopathies through standardized data collection and collaborative efforts.
Abstract:
Most cardiomyopathies are familial diseases. Cascade family screening identifies asymptomatic patients and family members with early traits of disease. The inheritance is autosomal dominant in a majority of cases, and recessive, X-linked, or matrilinear in the remaining. For the last 50 years, cardiomyopathy classifications have been based on the morphofunctional phenotypes, allowing cardiologists to conveniently group them in broad descriptive categories. However, the phenotype may not always conform to the genetic characteristics, may not allow risk stratification, and may not provide pre-clinical diagnoses in the family members. Because genetic testing is now increasingly becoming a part of clinical work-up, and based on the genetic heterogeneity, numerous new names are being coined for the description of cardiomyopathies associated with mutations in different genes; a comprehensive nosology is needed that could inform the clinical phenotype and involvement of organs other than the heart, as well as the genotype and the mode of inheritance. The recently proposed MOGE(S) nosology system embodies all of these characteristics, and describes the morphofunctional phenotype (M), organ(s) involvement (O), genetic inheritance pattern (G), etiological annotation (E) including genetic defect or underlying disease/substrate, and the functional status (S) of the disease using both the American College of Cardiology/American Heart Association stage and New York Heart Association functional class. The proposed nomenclature is supported by a web-assisted application and assists in the description of cardiomyopathy in symptomatic or asymptomatic patients and family members in the context of genetic testing. It is expected that such a nomenclature would help group cardiomyopathies on their etiological basis, describe complex genetics, and create collaborative registries.
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