Cardiovascular Genetics – Focus on Paediatric Cardiomyopathy

The last few decades have seen significant advances in genetic sequencing technologies and, as a result, our understanding of the genetic basis of cardiovascular disease. One group of conditions that have benefited the most from this improved genetic knowledge is the cardiomyopathies, which are characterised by structural, functional, and electrical abnormalities of the heart muscle. Cardiomyopathy is rare in childhood, with an estimated annual incidence of 1.1 to 1.5 per 100,000. Despite this, much of the data available on aetiology and management of cardiomyopathies in the paediatric population is extrapolated from adult data, and, until recently, there have been few paediatric-specific guidelines. Over the last few years, however, novel data on the genetic basis, natural history, and risk stratification of childhood cardiomyopathy have emerged, heralding an era of precision medicine in the field of heart muscle disease.

In this Research Topic, we will present state-of-the-art reviews on the genetic basis, clinical course and management of the broad range of cardiomyopathies in childhood (including hypertrophic, dilated, arrhythmogenic, restrictive and noncompaction cardiomyopathies), as well as provide an overview of genetic testing and interpretation in paediatric heart muscle disease. We also welcome and encourage original research articles and innovative reports on the genetic basis and clinical course of the following:

• Hypertrophic cardiomyopathy
• Dilated cardiomyopathy
• Arrhythmogenic cardiomyopathies (ARVC, arrhythmogenic DCM)
• Restrictive cardiomyopathy
• Noncompaction cardiomyopathy
• Cardiac ion channel disease
• Sudden cardiac death
• Aortopathy syndromes