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From SNPedia
Dilated cardiomyopathy
Is agenotype
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GCAC) 6.2 Dilated cardiomyopathy

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Dilated cardiomyopathy (DCM) is a heart muscle disorder that eventually leads to heart failure and related issues.
  • While 60% of patients are diagnosed by age 40, prognosis varies partly based on which gene (LMNA, DMD, TNNT2, or other) carries the DCM mutation.
  • ACE inhibitors and beta-blockers are recommended in patients with a reduced ejection fraction to prevent heart failure.
  • Implantable cardiac device (ICD) therapy should be considered in patients with a familial cardiomyopathy associated with sudden cardiac death (SCD).
  • Extensive clinical screening for DCM is recommended for everyone known to carry a disease-causing mutation, since DCM is best treated early in the disease process.
  • Pregnancy is contraindicated in DCM, and is associated with a DCM-related risks. Pregnant women who have a DCM mutation should be followed by a high risk obstetrician.

The full ClinGen Actionability report about Dilated Cardiomyopathy (DCM) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.