Key result
This review summarizes the genetic basis, clinical utility, current challenges, and emerging developments of genetic testing for familial cardiomyopathies.
This review highlights the growing clinical utility and challenges of molecular diagnostics in the evaluation and management of familial cardiomyopathies.
Genetic testing may aid familial cardiomyopathy evaluation; leaves open standardization and broader validation.
Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Recently, clinical genetic tests for familial cardiomyopathies have become available for clinicians evaluating and treating patients with these diseases, making it necessary to understand the current progress and challenges in cardiomyopathy genetics and diagnostics. In this review, we summarize the genetic basis of selected cardiomyopathies, describe the clinical utility of genetic testing for cardiomyopathies and outline the current challenges and emerging developments.
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Callis et al. (2010) conducted a review in Familial cardiomyopathies. Genetic testing was evaluated. This review summarizes the genetic basis, clinical utility, current challenges, and emerging developments of genetic testing for familial cardiomyopathies.
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