Article Impact Level: HIGH Data Quality: STRONG Summary of JAMA Cardiology. https://doi.org/10.1001/jamacardio.2022.2455 Dr. Lisa Dellefave-Castillo et al
Points
- The goal of this study was to explore the impact and diagnostic value of the combined genetic testing of arrhythmia and cardiomyopathy for suspected cases of arrhythmia and cardiomyopathy.
- In this study of patients having suspicion of genetic arrhythmia and cardiomyopathy, variants of disease were found in almost 19.9% of patients. From these positive cases, 66% of patients have genetic variants which can affect clinical management.
- The results of combined genetic testing of arrhythmia and cardiomyopathy showed more positive results as compared to disease-specific testing.
Summary
The study was carried out to explore the impact and diagnostic value of the combined genetic testing of arrhythmia and cardiomyopathy for suspected cases of arrhythmia and cardiomyopathy. A total of 4782 patients were included in this retrospective group study who were suspected of genetic arrhythmia or cardiomyopathy on the basis of family or personal history. Genetic testing through DNA sequencing was performed for genes associated with arrhythmia and cardiomyopathy. Disease-specific gene testing was compared with genetic testing with combined arrhythmia and cardiomyopathy.
Patients who have any specific genetic mutation showed adverse clinical outcomes, which increase the risk of arrhythmia; some targeted therapeutic techniques were also identified, which have positive results in clinical management. The results of combined genetic testing of arrhythmia and cardiomyopathy showed more positive results as compared to disease-specific testing as it identified some additional disease-causing mutations/variants as compared to disease-specific testing. This is very helpful in family screening and clinical management. In this study of patients having suspicion of genetic arrhythmia and cardiomyopathy, variants of disease were found in almost 19.9% of patients. From these positive cases, 66% of patients have genetic variants which can affect clinical management. Some other variants of uncertain significance were also noted, which suggested that there is a need for broader testing because these uncertain variants can be problematic for both the patients and the clinicians.
Link to the article: https://jamanetwork.com/journals/jamacardiology/fullarticle/2795105
References Dellefave-Castillo, L. M., Cirino, A. L., Callis, T. E., Esplin, E. D., Garcia, J., Hatchell, K. E., Johnson, B., Morales, A., Regalado, E., Rojahn, S., Vatta, M., Nussbaum, R. L., & McNally, E. M. (2022). Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing. JAMA Cardiology. https://doi.org/10.1001/jamacardio.2022.2455
