Cardiac conduction disease [54 genes]

There is a large number of genes associated with the development of cardiomyopathies whose first clinical manifestation can be the presence of cardiac conduction disorders, such as atrioventricular blocks. The same is true for some channelopathies. Many of these pathologies may be undiagnosed because their clinical expression can be very mild in the 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.

The probability of finding a pathogenic mutation when a patient presents cardiac conduction disorders has not been clearly established. However, the probability could be higher in cases where there is a family history of these disorders, and when it occurs in young subjects without a clear cause.