Spectrum and classification of inherited cardiovascular disease

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Abstract

Since early times, clinicians and researchers have sought to explain the world around them using classification systems. Some of these are simply catalogues and others attempt to capture complexity in simple form. So it is with inherited cardiac conditions (ICCs). Early classification systems-which remain useful- were based on anatomical/pathological description. As the genetic mechanisms and genes responsible for ICCs were identified, initial attempts at molecular classification looked promising. But as knowledge increases, so often does complexity, and over the past 20 years the underlying heterogeneity that characterises so much human disease has been reported in every ICC. While this has lead to some fascinating insights into biology and therapy, this heterogeneity remains challenging to classify and, ultimately, a combined approach is necessary. As genomic medicine progresses and we enter an era of personalised medicine, our ability to develop an organic classification system able to deal with complexity will be key.

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Brennan, P. (2018). Spectrum and classification of inherited cardiovascular disease. In Cardiovascular Genetics and Genomics: Principles and Clinical Practice (pp. 35–69). Springer International Publishing. https://doi.org/10.1007/978-3-319-66114-8_2

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