For citation purposes: Phelan D, Wilson GR, James PA, Lockhart PJ. The genetics of cardiomyopathy, new technologies and the path to personalised medicine. OA Genetics 2013 Aug 01;1(1):9.


Genetics of Complex Diseases

The genetics of cardiomyopathy, new technologies and the path to personalised medicine

D Phelan, GR Wilson, PA James, PJ Lockhart

Authors affiliations

(1) Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia

(2) Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia

(3) Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria 3052, Australia

*Corresponding author E-mail:



Cardiomyopathy is defined as the weakening of the heart muscle, which reduces the ability of the heart to pump blood. Inherited cardiomyopathies include hypertrophic, dilated, arrythmogenic right ventricular, restrictive and unclassified cardiomyopathies. The discovery of numerous disease-causing genes has demonstrated these cardiomyopathies have a substantial genetic aetiology. Molecular genetic diagnosis in individuals with cardiomyopathy facilitates medical interventions to prevent serious complications, such as heart failure and arrhythmia. In addition, it enables cascade testing to identify additional at-risk family members and the provision of informed counselling. Traditionally, issues of genetic heterogeneity, clinical variability and reduced penetrance have meant that molecular genetic screening was time consuming and costly. However, modern genomic technologies, in particular Next Generation Sequencing, support comprehensive and rapid molecular genetic screening for cardiomyopathy. The aim of this article is to provide an overview of the genetics and pathogenesis of cardiomyopathy. We will also discuss how new genetic technologies are being used to accelerate gene discovery and molecular genetic diagnosis and increase the potential for personalised medicine for individuals with cardiomyopathy.


Considerable progress in understanding of the biology of cardiomyopathy has been driven in part by gene identification, which has been accelerated dramatically by Next Generation Sequencing technology. Next Generation Sequencing coupled with increased understanding of disease biology is making personalised medicine a reality. Despite the advances in technology, limitations remain in data quality, analysis and interpretation. A portion of patients with cardiomyopathy still remain undiagnosed due in part to the difficulty in identifying casual variants among the many genetic variants identified by Next Generation Sequencing. This has highlighted the need to advance current databases and improve collaboration between the laboratory and clinic.

Licensee OA Publishing London 2013. Creative Commons Attribution License (CC-BY)