| Geno
|
Mag
|
Summary
|
| (A;G)
|
6.2
|
Dilated cardiomyopathy
|
| (C;G)
|
6.4
|
Emery-Dreifuss Muscular Dystrophy
|
| (G;G)
|
0
|
common in clinvar
|
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.
