Key result
Recent advances have increasingly identified the genetic causes of childhood cardiomyopathies and their underlying pathophysiological mechanisms.
This review summarizes recent advances in the understanding of genetic etiologies and pathophysiological mechanisms of childhood cardiomyopathies.
May guide genetic evaluation in childhood cardiomyopathy; leaves open translation of mechanisms to targeted therapies.
Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.
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Vatta et al. (2011) conducted a review in Cardiomyopathies in children. Genetics of cardiomyopathies was evaluated. Recent advances have increasingly identified the genetic causes of childhood cardiomyopathies and their underlying pathophysiological mechanisms.
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