The genetic test is indicated when there is a suspicion of familial dilated cardiomyopathy:
- It can identify the causal mutation, which confirms the diagnosis of the disease and constitutes an important tool for differential diagnosis since its presentation frequently overlaps with other cardiomyopathies.
- Not all mutations in different genes show a similar behavior-they are usually associated with a specific set of symptoms and with a different prognosis. This helps performing the appropriate risk stratification for the disease and foreseeing possible complications.
- In case a pathogenic mutation is detected, the test can be used with predictive value, constituting the cornerstone of genetic counseling. It is a cost-effective strategy for family monitoring since it allows detecting carriers at risk who must follow appropriate clinical monitoring (given that they are highly likely to develop the disease in the future). Contrarily, non-carriers present the same risk as the general population