Arrhythmogenic right ventricular cardiomyopathy (ARVC) is caused by the replacement of heart muscle cells by fatty cells and particularly affects cell junctions.Genetic analysis for ARVC primarily focuses on the genes that encode desmosomal proteins. In 10% of ARVC cases with a genetic cause, variants are also found in other types of genes. The MHI Molecular Diagnostic Laboratory reports, in the first line of analysis: PKP2 (25-40%), DSG2 (5-10%), DSP (2-12%), DSC2 (2-7%), JUP and TMEM43. The percentage indicates the frequency of variants found in these genes. If no variant is identified, seven other genes are analyzed in a second line of testing. Approximately 50% of ARVC cases have a genetic cause.
PMID: 21787999, 2011
PMID: 21459272, 2011
PMID: 23468208, 2013
Tested Genes :
| 1st intent | 2nd intent | 3rd intent |
|---|---|---|
| DSC2 DSG2 DSP JUP PKP2 TMEM43 | DES LMNA PLN RYR2 SCN5A TGFB3 TTN | None |