Cardiac Conduction Disease
There is a large number of genes associated with the development of cardiomyopathies whose first clinical manifestation may be the presence of cardiac conduction disorders, such as atrioventricular block. The same is true for some channelopathies. Many of these pathologies may be undiagnosed because the clinical expression may be very mild in their early stages.
- The genetic study confirms the clinical suspicion, and is itself an important tool in the differential diagnosis of the disease.
- The proper and correct diagnosis of the disease allows risk stratification. Some mutations in certain genes (for example LMNA) might provide prognosis information about the disease.
- This test has a predictive value of the disease when a pathogenic mutation is detected: it might be useful in genetic counseling; it allows detecting carriers at risk that should be under adequate clinical monitoring.
- The detection of non-carriers constitutes a cost-effective strategy, as they present a similar risk as the general population.
- 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.
- Rapezzi C, Arbustini E, Caforio A, 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)
Cardiac Conduction Disease Panel
This panel is indicated as a first diagnostic approach to a patient with cardiac conduction disorders, especially when there is family history (usually frequent history of pacemaker implantation in several members of the family) and in younger patients where there is no heart disease to explain the disorder.
The panel includes priority genes clearly related to the disease, some of which are also associated with other cardiomyopathies and channelopathies. Other secondary genes that have been associated with the disease sporadically and candidate genes arising from a systematic review of the literature are included.
DES, EMD, GLA, LAMP2, LMNA, PRKAG2, SCN5A, CACNA1D, GAA, GJA5, HCN4, HFE, MURC, NKX2-5, SCN10A, SCN1B, TBX5, TRPM4, TTR, ACTC1*, KCNE2*, KCNH2*, KCNQ1*, LDB3*, MYH6*, MYH7*, NPPA*, SCN4B*