Journal article

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

D Phelan, GR Wilson, PA James, PJ Lockhart

OA Genetics | OA Publishing London | Published : 2013


Introduction 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. Tradit..

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