| Familial dilated cardiomyopathy (DCM) is characterized by a weakening of the ventricular muscle that results in a reduction in the contraction force of the heart muscle. Genetic analysis of the DCM primarily focuses on genes that encode the sarcomere, cytoskeleton and ion channel proteins. Approximately 20-35% of DCM cases can be explained by a genetic cause. Over 25 genes can play a role in the disease, but none contributes to more than 5% of cases. Together, the MYBPC3, MYH7, TNNT2, LMNA and SCN5A genes are involved in 15-30% of DCM cases with a genetic cause. The MHI's Molecular Diagnostic Laboratory reports these genes in their first line testing, in addition to the following seven genes: BAG3, LDB3, MYH6, MYPN, RBM20, TNNI3 and TTN. If no significant variant is identified in the first line of analysis, 22 other genes are then evaluated. In addition, although less frequent (prevalence 1:7,000), the left ventricular non-compaction cardiomyopathy (LVNC) often presents a phenotype similar to a DCM and one variant is found in 5% of cases in the LDB3 gene. The MHI's Molecular DiagnosticLaboratory therefore includes the LVNC profile in that of DCM. The prevalence of DCM is 1:2,500-3,000, but might be underestimated. PMID: 21787999, 2011 PMID: 21459272, 2011 PMID: 23281406, 2013 PMID: 25443708, 2014 |
Tested Genes :
| 1st intent | 2nd intent | Third Line |
|---|---|---|
BAG3 TTN | ABCC9 ACTC1 ACTN2 ANKRD1 CSRP3 DES DSC2 DSG2 DSP EMD JUP LAMP2 NEXN PKP2 PLN RAF1 SGCD TAZ TCAP TNNC1 TPM1 VCL | None |