Cardiomyopathies: Classification, clinical characterization, and functional phenotypes

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Cardiomyopathy is a category of disorders that affect the cardiac muscle and can cause extensive disability in a large and ethnically diverse population. It has been classified by the World Health Organization into three main types, based on anatomical and physiological features: dilated (DCM), hypertrophic (HCM), and restrictive (RCM). While DCM and RCM are associated with a progressive disease phenotype, heart failure, and sudden death, HCM is the leading cause of sudden cardiac death (SCD) in young athletes and is one of the most common forms of heart diseases affecting children. One review article in this issue by C. McCartan et al. discusses how the traditional classification of cardiomyopathies based on morphology has evolved due to rapid advances in our understanding of the genetic and molecular bases for many of these clinical entities. The implications of genetic testing have been discussed as being extremely valuable in the prognosis and treatment of cardiomyopathies. The authors emphasize that such testing may allow clinicians to move beyond unexplained ventricular abnormalities, identify positive patients and their genetic cause, and predict likely outcomes. A similar need for genetic testing has been voiced in another review article in this issue, by R. Parvari and A. Levitas, which addresses the pathogenesis of hereditary DCM. The authors strongly argue that the idea of early identification of the disease-causing mutations as presymptomatic interventions in DCM has proven valuable in preventing morbidity and mortality.




Szczesna-Cordary, D., Morimoto, S., Gomes, A. V., & Moore, J. R. (2012). Cardiomyopathies: Classification, clinical characterization, and functional phenotypes. Biochemistry Research International.

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