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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Dilated cardiomyopathy genetic testing

Introduction

Overview

Overview

About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.

Genetic Testing

Genetic Testing

  • FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
  • Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.[1]
  • About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
  • A full list of the genes that have been associated with DCM can be found in the Pathophysiology section.
  • A cohort study by Haas et al. showed that the genetic mutations in FCD overlap with other cardiomyopathies, highlighting the value of genetic testing in different types of cardiomyopathy.[2]
  • Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.[3]
References

References

  1. ↑ McNally EM, Golbus JR, Puckelwartz MJ (2013). “Genetic mutations and mechanisms in dilated cardiomyopathy”. J Clin Invest. 123 (1): 19–26. doi:10.1172/JCI62862. PMC 3533274. PMID 23281406.
  2. ↑ McNally EM, Golbus JR, Puckelwartz MJ (2013). “Genetic mutations and mechanisms in dilated cardiomyopathy”. J Clin Invest. 123 (1): 19–26. doi:10.1172/JCI62862. PMC 3533274. PMID 23281406.
  3. ↑ Sweet M, Taylor MR, Mestroni L (2015). “Diagnosis, prevalence, and screening of familial dilated cardiomyopathy”. Expert Opin Orphan Drugs. 3 (8): 869–876. doi:10.1517/21678707.2015.1057498. PMC 4988677. PMID 27547593.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdelrahman Ibrahim Abushouk, MD[2]