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Open Access Inherited Cardiomyopathies: Genetics and Clinical Genetic Testing

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Inherited cardiomyopathies are major causes of morbidity and mortality and include a group of cardiac disorders such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), left ventricular noncompaction (LVNC), and restrictive cardiomyopathy (RCM). These diseases have a substantial genetic component and predispose to sudden cardiac death. Since the first gene was identified as a disease-causing gene for HCM over two decades ago, more than eighty genes have been identified to be associated with inherited cardiomyopathies and genetic testing has become prevalent in making clinical diagnosis. With the advent of next-generation sequencing technology, genetic panel testing of inherited cardiomyopathies has become feasible and cost efficient. In this review, we summarize the individual cardiomyopathies with the emphasis on cardiomyopathy genetics and genetic testing.
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Keywords: ARVD/C; DCM; Genetics; HCM; LVNC; RCM

Document Type: Research Article

Publication date: February 1, 2017

More about this publication?
  • Cardiovascular Innovations and Applications (CVIA) publishes focused articles and original clinical research that explore novel developments in cardiovascular disease, effective control and rehabilitation in cardiovascular disease, and promote cardiovascular innovations and applications for the betterment of public health globally. The journal publishes basic research that has clinical applicability in order to promote timely communication of the latest insights relating to coronary artery disease, heart failure, hypertension, cardiac arrhythmia, prevention of cardiovascular disease with a heavy emphasis on risk factor modification. Cardiovascular Innovations and Applications is the official journal of the Great Wall International Congress of Cardiology (GW-ICC). It aims to continue the work of the GW-ICC by providing a global scientific communication platform for cardiologists that bridges East and West.

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