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The advent of modern molecular genetics – fuelled by an unprecedented pace of progress in technology and the landmark publication of the Human Genome Project – has fundamentally altered our understanding of a diverse range of cardiac disorders. Accompanying benefits include the promise of better disease detection through genetic testing, the potential for more accurate disease/mutation-specific management (including risk stratification and prognostication), and a greater understanding of pathogenetic mechanisms. Ultimately, it offers the prospect of novel therapies for both Mendelian inherited single-gene cardiac disorders and the more common cardiovascular phenotypes with complex inheritance. This review focuses on an illustrative group of inherited primary cardiomyopathies (hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy) – the first cardiac disorders to be accurately delineated at the molecular genetic level – and attempts to correlate clinical manifestations with what is known about the molecular substrate.

Original publication




Journal article


Medicine (United Kingdom)

Publication Date





496 - 501