Abstract
Although remarkably heterogeneous, the genetic etiologies for nonischemic forms of cardiomyopathy are becoming increasingly clear. Lower costs and better characterization of normal human genetic variation has led to improved utility of clinical genetic testing for cardiomyopathy. Clinicians with expertise in heart failure should recognize the phenotypic features that suggest a familial form of cardiomyopathy, and similarly they should be able to interpret clinical genetic test reports for patients with nonischemic cardiomyopathy. This chapter provides additional information on several genetic disorders that lead to heart failure, such as Fabry disease, Danon disease, transthyretin amyloidosis, arrhythmogenic right ventricular cardiomyopathy, and left ventricular noncompaction cardiomyopathy. Cardiomyocyte subunits, such as sarcomeres, nuclear envelopes, and mitochondria are also included with examples of how mutations in genes encoding related proteins lead to heart failure.
Published Version
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