In both cardiomyopathies and channelopathies, the identification of the pathogenic variant allows the disease to be confirmed and prevention measures to be taken for both the patient and their relatives.
The likelihood that a young case of sudden death is of genetic origin means that other relatives may be at risk without diagnosis. In these cases, genetic studies can prevent a second death. The service can be very beneficial for forensic institutes.
After several clinical tests, the cause of the loss of consciousness may remain known. Performing a genetic study can be conclusive.
Epilepsy can be the result of a cardiac arrhythmia. Cardiological clinical tests are recommended to rule out an inherited arrhythmia, and to consider a genetic study if this possibility is confirmed.
Family history of cardiovascular disease.
Hereditary factors may be determinant in familial predisposition to coronary heart disease and sudden death.
Hypercholesterolemia may be responsible for cardiovascular disease and heart attacks at a very young age.
Thrombosis of unknown origin.
The detection of genetic variants in the tumor allows the adoption of precision treatments to improve survival and quality of life.