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Current Heart Failure Reports

, Volume 12, Issue 6, pp 339–349 | Cite as

Evolving Approaches to Genetic Evaluation of Specific Cardiomyopathies

  • Loon Yee Louis Teo
  • Rocio T. Moran
  • W. H. Wilson Tang
Biomarkers of Heart Failure (W H W Tang, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Biomarkers of Heart Failure

Abstract

The understanding of the genetic basis of cardiomyopathy has expanded significantly over the past 2 decades. The increasing availability, shortening diagnostic time, and lowering costs of genetic testing have provided researchers and physicians with the opportunity to identify the underlying genetic determinants for thousands of genetic disorders, including inherited cardiomyopathies, in effort to improve patient morbidities and mortality. As such, genetic testing has advanced from basic scientific research to clinical application and has been incorporated as part of patient evaluations for suspected inherited cardiomyopathies. Genetic evaluation framework of inherited cardiomyopathies typically encompasses careful evaluation of family history, genetic counseling, clinical screening of family members, and if appropriate, molecular genetic testing. This review summarizes the genetics, current guideline recommendations, and evidence supporting the genetic evaluation framework of five hereditary forms of cardiomyopathy: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC).

Keywords

Genetic evaluation Cardiomyopathy Hereditary Genetic testing Evolving approaches 

Notes

Compliance with Ethical Standards

Conflict of Interest

Loon Yee Louis Teo and Rocio T. Moran declare that they have no conflict of interest.

W. H. Wilson Tang declares grants from the National Institutes of Health during the conduct of this study.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Loon Yee Louis Teo
    • 1
  • Rocio T. Moran
    • 2
  • W. H. Wilson Tang
    • 1
    • 3
  1. 1.Kaufman Center for Heart Failure, Department of Cardiovascular Medicine, Heart and Vascular InstituteCleveland ClinicClevelandUSA
  2. 2.Division of Genetics and GenomicsMetroHealth Medical CenterClevelandUSA
  3. 3.Center for Clinical GenomicsCleveland ClinicClevelandUSA

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