TY - JOUR
T1 - The MOGE(S) classification of cardiomyopathy for clinicians
AU - Arbustini, Eloisa
AU - Narula, Navneet
AU - Tavazzi, Luigi
AU - Serio, Alessandra
AU - Grasso, Maurizia
AU - Favalli, Valentina
AU - Bellazzi, Riccardo
AU - Tajik, Jamil A.
AU - Bonow, Robert D.
AU - Fuster, Valentin
AU - Narula, Jagat
N1 - Funding Information:
This study was supported by Grants European Union INHERITANCE project n°241924 and Italian Ministry of Health “Diagnosis and Treatment of Hypertrophic Cardiomyopathies” (n°RF-PSM-2008-1145809) (to Dr. Arbustini), IRCCS Policlinico San Matteo, Pavia. Dr. Tavazzi has served as a member of the Speaker's Bureau for Servier; has been a trial committee member for Servier, Cardiorentis, Boston Scientific, St. Jude Medical, CVIE Therapeutics, Vifor Pharma, and Medtronic. Dr. Narula has received research grants from GE Healthcare & Philips Healthcare . All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
PY - 2014/7/22
Y1 - 2014/7/22
N2 - 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.
AB - 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.
KW - cardiomyopathy
KW - classification
KW - genetics
UR - http://www.scopus.com/inward/record.url?scp=84904553187&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2014.05.027
DO - 10.1016/j.jacc.2014.05.027
M3 - Review article
C2 - 25034069
AN - SCOPUS:84904553187
SN - 0735-1097
VL - 64
SP - 304
EP - 318
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 3
ER -