The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: More questions than answers?

摘要

I appreciate the recent paper by Arbustini et al. (1) in which they propose a descriptive nosology that combines morphofunctional trait and organ/system involvement with familial inheritance pattern, identified genetic defect, or other etiologies. In my opinion, a real revolution for clinical geneticists was the introduction of the concept of diagnostic "red flags" made by Dr. Arbustini, clinical markers that can guide the genetic research to a specific gene (for example, atrioventricular block for the lamin A/G gene or increased serum creatine phosphokinase for dystrophin gene defects). On the basis of these red flags, the authors proposed this new classification, which is much more detailed with respect to the previous American and European attempts (2,3).