Non-compaction cardiomyopathy is a clinically heterogeneous disease, which is characterized by the presence of excessively prominent trabeculations in the myocardium accompanied by crypts and a very thin layer of compacted heart muscle. Mutations in genes that are associated with other types of cardiomyopathies (particularly hypertrophic and dilated) can cause this pathology. However, genes specifically related to non-compaction cardiomyopathy have also been described.
- It is able to identify the causative mutation, confirming the diagnosis of the disease. Due to the clinical heterogeneity with much overlap between different phenotypes, it is very important for differential diagnosis.
- When a pathogenic mutation is detected, it can be used as a predictive test. It is useful in genetic counseling, since it can detect carriers at risk who should undergo adequate clinical monitoring.
- Rapezzi C, et al. Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013;34(19):1448-1458. (doi:10.1093/eurheartj/ehs397
- Charron P, Arad M, Monserrat L, et al. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-2728.
Non-compaction Cardiomyopathy Panel
This panel is indicated as a first diagnostic approach in patients with a clear phenotype of non-compaction cardiomyopathy. It is a panel designed specifically for this pathology. It includes priority genes, which are genes that have been clearly associated with the disease. Some of them are also associated with other cardiomyopathies. Genes that have been sporadically associated with the disease are listed as secondary genes, and candidate genes gathered from a systematic literature review are also included.
ACTC1, MYBPC3, MYH7, TAZ, ACTN2, DMD, DNAJC19, DTNA, FHL1, HCN4, LDB3, LMNA, MIB1, MYH6, MYL2, NKX2-5, PLN, PRDM16, RYR2, TNNT2, TPM1, ANKRD1*, BAG3*, CASQ2*, CSRP3*, DSP*, FLNC*, KCNH2*, KCNQ1*, MLYCD*, MYL3*, NOTCH1*, PTPN11*, TNNC1*, TNNI3*, TTN*