Therapy Based on Genetic Testing

As already discussed, the finding of any specific mutation as the cause of the cardiomyopathy does not in itself guide therapy. However, the clinical characteristics associated with some disease genes (Table 17.5), when integrated with the clinical and family data, may influence the overall case assessment, and may appropriately impact all aspects of the clinical recommendations. This includes the frequency and stringency of presymptomatic screening for signs of disease, the strength of interventions to educate family members of risks and symptoms, the threshold for presymptomatic initiation of preventive (eg, ICDs in certain HCM, DCM or ARVD/C settings) or therapeutic interventions (eg, beta blockers or ACE inhibitors in presymptomatic DCM).