Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

Abstract

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.

Keywords::

• arrhythmogenic right ventricular
• cardiomyopathy
• dilated
• genetic testing
• hypertrophic
• left ventricular noncompaction
• molecular diagnostics
• mutations
• restrictive

Acknowledgements

The authors thank Melvin Scheinman from the University of California, San Francisco School of Medicine for assistance with the original clinical examples of familial ARVC included in the figures.

Financial & competing interests disclosure

The authors are supported by the American Heart Association (Scientist Development Grant to Monte Willis) and the NIH (1K08HL096836–01 to Brian Jensen). Thomas Callis is a Clinical Genetics Liaison in PGxHealth, a division of Clinical Data, Inc. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.