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This figure shows the two-dimensional echocardiographic views in a boy with restrictive cardiomyopathy (RCM) associated with a de novo mutation in
TNNI3. The phenotype and the genetic cause are summarized by the MOGES nosology MR OH GS EG-DN-TNNI3[p.Arg170Gln] SC-III in which M describes the
morphofunctional phenotype (RCM, abbreviated as R); O describes the organs affected in the given patient (in this case, the heart was the only involved
organ); G defines whether the cardiomyopathy is genetic or not and includes information on the pattern of inheritance or whether it appeared as sporadic in
the family representing a possible de novo disease, which is confirmed after genetic testing; E is the precision diagnostic descriptor and specifies the
cause, the disease gene(s), and the mutation(s) (in this patient, the mutation in TNNI3 was proven de novo); and S is optional and includes New York
Source: RESTRICTIVE HEART DISEASES, Hurst's The Heart, 14e
Heart Association functional class (I-IV) and American Heart Association stage (A-D). The practical use is supported by a free app at
Citation: Fuster V, Harrington RA, Narula J, Eapen ZJ. Hurst's The Heart, 14e; 2017 Available at: http://mhmedical.com/ Accessed: May 06,
http://moges.biomeris.com/moges.html.
2017
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